Personalized medicine, also referred to as precision medicine, is a
medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease.
The terms personalized medicine, precision medicine, stratified medicine and P4 medicine are used interchangeably to describe this concept
though some authors and organisations use these expressions separately to indicate particular nuances.
While the tailoring of treatment to patients dates back at least to the time of
Hippocrates
Hippocrates of Kos (; grc-gre, Ἱπποκράτης ὁ Κῷος, Hippokrátēs ho Kôios; ), also known as Hippocrates II, was a Greek physician of the classical period who is considered one of the most outstanding figures in the history o ...
, the term has risen in usage in recent years given the growth of new diagnostic and informatics approaches that provide understanding of the molecular basis of disease, particularly
genomics
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dim ...
. This provides a clear evidence base on which to stratify (group) related patients.
Among the 14
Grand Challenges for Engineering, an initiative sponsored by
National Academy of Engineering
The National Academy of Engineering (NAE) is an American nonprofit, non-governmental organization. The National Academy of Engineering is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of ...
(NAE), personalized medicine has been identified as a key and prospective approach to "achieve optimal individual health decisions", therefore overcoming the challenge of "
Engineer better medicines".
Development of concept
In personalised medicine,
diagnostic testing
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic t ...
is often employed for selecting appropriate and optimal therapies based on the context of a patient's genetic content or other molecular or cellular analysis.
The use of genetic information has played a major role in certain aspects of personalized medicine (e.g.
pharmacogenomics), and the term was first coined in the context of genetics, though it has since broadened to encompass all sorts of
personalization
Personalization (broadly known as customization) consists of tailoring a service or a product to accommodate specific individuals, sometimes tied to groups or segments of individuals. A wide variety of organizations use personalization to improv ...
measures,
including the use of
proteomics
Proteomics is the large-scale study of proteins. Proteins are vital parts of living organisms, with many functions such as the formation of structural fibers of muscle tissue, enzymatic digestion of food, or synthesis and replication of DNA. I ...
, imaging analysis, nanoparticle-based theranostics,
among others.
Relationship to personalized medicine
Precision medicine (PM) is a
medical model that proposes the customization of
healthcare
Health care or healthcare is the improvement of health via the prevention, diagnosis, treatment, amelioration or cure of disease, illness, injury, and other physical and mental impairments in people. Health care is delivered by health pro ...
, with medical decisions, treatments, practices, or products being tailored to a subgroup of patients, instead of a one‐drug‐fits‐all model. In precision medicine, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient’s genetic content or other molecular or cellular analysis. Tools employed in precision medicine can include
molecular diagnostics, imaging, and analytics.
In explaining the distinction from a similar common term of ''personalized medicine'', the National Research Council explains:
On the other hand, use of the term "precision medicine" can extend beyond treatment selection to also cover creating unique medical products for particular individuals—for example, "...patient-specific tissue or organs to tailor treatments for different people." Hence, the term in practice has so much overlap with "personalized medicine" that they are often used interchangeably.
Background
Basics
Every person has a unique variation of the human
genome
In the fields of molecular biology and genetics, a genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding ...
.
Although most of the variation between individuals has no effect on health, an individual's health stems from genetic variation with behaviors and influences from the environment.
Modern advances in personalized medicine rely on technology that confirms a patient's fundamental biology,
DNA,
RNA, or
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
, which ultimately leads to confirming disease. For example, personalised techniques such as genome sequencing can reveal mutations in DNA that influence diseases ranging from cystic fibrosis to cancer. Another method, called
RNA-seq
RNA-Seq (named as an abbreviation of RNA sequencing) is a sequencing technique which uses next-generation sequencing (NGS) to reveal the presence and quantity of RNA in a biological sample at a given moment, analyzing the continuously changing ...
, can show which RNA molecules are involved with specific diseases. Unlike DNA, levels of RNA can change in response to the environment. Therefore, sequencing RNA can provide a broader understanding of a person's state of health. Recent studies have linked genetic differences between individuals to RNA expression, translation,
and protein levels.
The concepts of personalised medicine can be applied to new and transformative approaches to health care. Personalised health care is based on the dynamics of systems biology and uses predictive tools to evaluate health risks and to design personalised health plans to help patients mitigate risks, prevent disease and to treat it with precision when it occurs. The concepts of personalised health care are receiving increasing acceptance with the Veterans Administration committing to personalised, proactive patient driven care for all veterans. In some instances personalised health care can be tailored to the markup of the disease causing agent instead of the patient's genetic markup; examples are drug resistant bacteria or viruses.
Precision medicine often involves the application of
panomic analysis and
systems biology
Systems biology is the computational and mathematical analysis and modeling of complex biological systems. It is a biology-based interdisciplinary field of study that focuses on complex interactions within biological systems, using a holistic ...
to analyze the cause of an individual patient's disease at the molecular level and then to utilize
targeted treatments (possibly in combination) to address that individual patient's disease process. The patient's response is then tracked as closely as possible, often using surrogate measures such as tumor load (versus true outcomes, such as five-year survival rate), and the treatment finely adapted to the patient's response. The branch of precision medicine that addresses cancer is referred to as "precision oncology". The field of precision medicine that is related to psychiatric disorders and mental health is called "precision psychiatry."
Inter-personal difference of
molecular pathology
Molecular pathology is an emerging discipline within pathology which is focused in the study and diagnosis of disease through the examination of molecules within organs, tissues or bodily fluids. Molecular pathology shares some aspects of practice ...
is diverse, so as inter-personal difference in the
exposome, which influence disease processes through the
interactome within the
tissue microenvironment, differentially from person to person. As the theoretical basis of precision medicine, the "unique disease principle"
emerged to embrace the ubiquitous
phenomenon
A phenomenon ( : phenomena) is an observable event. The term came into its modern philosophical usage through Immanuel Kant, who contrasted it with the noumenon, which ''cannot'' be directly observed. Kant was heavily influenced by Gottfrie ...
of
heterogeneity of
disease
A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...
etiology
Etiology (pronounced ; alternatively: aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek (''aitiología'') "giving a reason for" (, ''aitía'', "cause"); and ('' -logía''). More completely, ...
and
pathogenesis. The unique disease principle was first described in neoplastic diseases as the unique tumor principle. As the exposome is a common
concept
Concepts are defined as abstract ideas. They are understood to be the fundamental building blocks of the concept behind principles, thoughts and beliefs.
They play an important role in all aspects of cognition. As such, concepts are studied by ...
of
epidemiology
Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and determinants of health and disease conditions in a defined population.
It is a cornerstone of public health, and shapes policy decisions and evi ...
, precision medicine is intertwined with
molecular pathological epidemiology, which is capable of identifying potential
biomarkers for precision medicine.
Method
In order for physicians to know if a mutation is connected to a certain disease, researchers often do a study called a "
genome-wide association study" (GWAS). A GWAS study will look at one disease, and then sequence the genome of many patients with that particular disease to look for shared mutations in the genome. Mutations that are determined to be related to a disease by a GWAS study can then be used to diagnose that disease in future patients, by looking at their genome sequence to find that same mutation. The first GWAS, conducted in 2005, studied patients with
age-related macular degeneration
Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, som ...
(ARMD).
It found two different mutations, each containing only a variation in only one nucleotide (called
single nucleotide polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently larg ...
s, or SNPs), which were associated with ARMD. GWAS studies like this have been very successful in identifying common genetic variations associated with diseases. As of early 2014, over 1,300 GWAS studies have been completed.
Disease risk assessment
Multiple genes collectively influence the likelihood of developing many common and complex diseases.
Personalised medicine can also be used to predict a person's risk for a particular disease, based on one or even several genes. This approach uses the same sequencing technology to focus on the evaluation of disease risk, allowing the physician to initiate preventive treatment before the disease presents itself in their patient. For example, if it is found that a DNA mutation increases a person's risk of developing
Type 2 Diabetes
Type 2 diabetes, formerly known as adult-onset diabetes, is a form of diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. Common symptoms include increased thirst, frequent urinatio ...
, this individual can begin lifestyle changes that will lessen their chances of developing Type 2 Diabetes later in life.
Practice
The ability to provide precision medicine to patients in routine clinical settings depends on the availability of molecular profiling tests, e.g. individual
germline
In biology and genetics, the germline is the population of a multicellular organism's cells that pass on their genetic material to the progeny (offspring). In other words, they are the cells that form the egg, sperm and the fertilised egg. They ...
DNA sequencing.
While precision medicine currently individualizes treatment mainly on the basis of genomic tests (e.g. Oncotype DX), several promising technology modalities are being developed, from techniques combining spectrometry and computational power to real-time imaging of drug effects in the body. Many different aspects of precision medicine are tested in research settings (e.g., proteome, microbiome), but in routine practice not all available inputs are used. The ability to practice precision medicine is also dependent on the knowledge bases available to assist clinicians in taking action based on test results.
Early studies applying omics-based precision medicine to cohorts of individuals with undiagnosed disease has yielded a diagnosis rate ~35% with ~1 in 5 of newly diagnosed receiving recommendations regarding changes in therapy.
On the treatment side, PM can involve the use of customized medical products such drug cocktails produced by pharmacy
compounding
In the field of pharmacy, compounding (performed in compounding pharmacies) is preparation of a custom formulation of a medication to fit a unique need of a patient that cannot be met with commercially available products. This may be done for me ...
or customized devices. It can also prevent harmful drug interactions, increase overall efficiency when prescribing medications, and reduce costs associated with healthcare.
The question of who benefits from publicly funded genomics is an important public health consideration, and attention is needed to ensure that implementation of genomic medicine does not further entrench social‐equity concerns.
Artificial intelligence in precision medicine
Artificial intelligence
Artificial intelligence (AI) is intelligence—perceiving, synthesizing, and inferring information—demonstrated by machines, as opposed to intelligence displayed by animals and humans. Example tasks in which this is done include speech ...
is a providing paradigm shift toward precision medicine.
Machine learning
Machine learning (ML) is a field of inquiry devoted to understanding and building methods that 'learn', that is, methods that leverage data to improve performance on some set of tasks. It is seen as a part of artificial intelligence.
Machine ...
algorithms
In mathematics and computer science, an algorithm () is a finite sequence of rigorous instructions, typically used to solve a class of specific problems or to perform a computation. Algorithms are used as specifications for performing ...
are used for genomic sequence and to analyze and draw inferences from the vast amounts of data patients and healthcare institutions recorded in every moment. AI techniques are used in precision cardiovascular medicine to understand genotypes and phenotypes in existing diseases, improve the quality of patient care, enable cost-effectiveness, and reduce readmission and mortality rates.
A 2021 paper reported that machine learning was able to predict the outcomes of Phase III clinical trials (for treatment of prostate cancer) with 76% accuracy. This suggests that clinical trial data could provide a practical source for machine learning-based tools for precision medicine.
Precision medicine may be susceptible to subtle forms of
algorithmic bias. For example, the presence of multiple entry fields with values entered by multiple observers can create distortions in the ways data is understood and interpreted. A 2020 paper showed that training machine learning models in a population-specific fashion (i.e. training models specifically for Black cancer patients) can yield significantly superior performance than population-agnostic models.
Precision Medicine Initiative
In his 2015
State of the Union
The State of the Union Address (sometimes abbreviated to SOTU) is an annual message delivered by the president of the United States to a joint session of the United States Congress near the beginning of each calendar year on the current condit ...
address, U.S. President
Barack Obama
Barack Hussein Obama II ( ; born August 4, 1961) is an American politician who served as the 44th president of the United States from 2009 to 2017. A member of the Democratic Party (United States), Democratic Party, Obama was the first Af ...
stated his intention to fund an amount of $215 million to the "
Precision Medicine Initiative" of the United States National Institutes of Health.
A short-term goal of the Precision Medicine Initiative was to expand cancer genomics to develop better prevention and treatment methods. In the long term, the Precision Medicine Initiative aimed to build a comprehensive scientific knowledge base by creating a national network of scientists and embarking on a national cohort study of one million Americans to expand our understanding of health and disease.
The Mission Statement of the Precision Medicine Initiative read: "To enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized treatments". In 2016 this initiative was renamed "All of Us" and an initial pilot project had enrolled about 10,000 people by January 2018.
Benefits of precision medicine
Precision medicine helps health care providers better understand the many things—including environment, lifestyle, and heredity—that play a role in a patient's health, disease, or condition. This information lets them more accurately predict which treatments will be most effective and safe, or possibly how to prevent the illness from starting in the first place. In addition, benefits are to:
* shift the emphasis in medicine from reaction to prevention
* predict susceptibility to disease
* improve disease detection
* preempt disease progression
* customize disease-prevention strategies
* prescribe more effective drugs
* avoid prescribing drugs with predictable negative side effects
* reduce the time, cost, and failure rate of pharmaceutical clinical trials
* eliminate trial-and-error inefficiencies that inflate health care costs and undermine patient care
Applications
Advances in personalised medicine will create a more unified treatment approach specific to the individual and their genome. Personalised medicine may provide better diagnoses with earlier intervention, and more efficient drug development and more targeted therapies.
Diagnosis and intervention
Having the ability to look at a patient on an individual basis will allow for a more accurate diagnosis and specific treatment plan.
Genotyping
Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. ...
is the process of obtaining an individual's DNA sequence by using
biological assays.
By having a detailed account of an individual's DNA sequence, their genome can then be compared to a reference genome, like that of the
Human Genome Project
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both ...
, to assess the existing genetic variations that can account for possible diseases. A number of private companies, such as
23andMe,
Navigenics
Navigenics, Inc. was a privately held personal genomics company, based in Foster City, California, that used genetic testing to help people determine their individual risk for dozens of health conditions.Navigenics, Inc"Navigenics launches Health ...
, and
Illumina, have created Direct-to-Consumer genome sequencing accessible to the public.
Having this information from individuals can then be applied to effectively treat them. An individual's genetic make-up also plays a large role in how well they respond to a certain treatment, and therefore, knowing their genetic content can change the type of treatment they receive.
An aspect of this is
pharmacogenomics, which uses an individual's genome to provide a more informed and tailored drug prescription.
Often, drugs are prescribed with the idea that it will work relatively the same for everyone, but in the application of drugs, there are a number of factors that must be considered. The detailed account of genetic information from the individual will help prevent adverse events, allow for appropriate dosages, and create maximum efficacy with drug prescriptions.
For instance,
warfarin
Warfarin, sold under the brand name Coumadin among others, is a medication that is used as an anticoagulant (blood thinner). It is commonly used to prevent blood clots such as deep vein thrombosis and pulmonary embolism, and to prevent st ...
is the FDA approved oral
anticoagulant
Anticoagulants, commonly known as blood thinners, are chemical substances that prevent or reduce coagulation of blood, prolonging the clotting time. Some of them occur naturally in blood-eating animals such as leeches and mosquitoes, where t ...
commonly prescribed to patients with blood clots. Due to
warfarin
Warfarin, sold under the brand name Coumadin among others, is a medication that is used as an anticoagulant (blood thinner). It is commonly used to prevent blood clots such as deep vein thrombosis and pulmonary embolism, and to prevent st ...
's significant interindividual variability in
pharmacokinetics
Pharmacokinetics (from Ancient Greek ''pharmakon'' "drug" and ''kinetikos'' "moving, putting in motion"; see chemical kinetics), sometimes abbreviated as PK, is a branch of pharmacology dedicated to determining the fate of substances administered ...
and
pharmacodynamics
Pharmacodynamics (PD) is the study of the biochemical and physiologic effects of drugs (especially pharmaceutical drugs). The effects can include those manifested within animals (including humans), microorganisms, or combinations of organisms ...
, its rate of adverse events is among the highest of all commonly prescribed drugs.
However, with the discovery of polymorphic variants in CYP2C9 and VKORC1 genotypes, two genes that encode the individual anticoagulant response, physicians can use patients' gene profile to prescribe optimum doses of warfarin to prevent side effects such as major bleeding and to allow sooner and better therapeutic efficacy.
The pharmacogenomic process for discovery of genetic variants that predict adverse events to a specific drug has been termed
toxgnostics.
An aspect of a theranostic platform applied to personalized medicine can be the use of
diagnostic tests
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic t ...
to guide therapy. The tests may involve
medical imaging
Medical imaging is the technique and process of imaging the interior of a body for clinical analysis and medical intervention, as well as visual representation of the function of some organs or tissues (physiology). Medical imaging seeks to re ...
such as
MRI contrast agents (T1 and T2 agents),
fluorescent markers (
organic dyes and inorganic
quantum dot
Quantum dots (QDs) are semiconductor particles a few nanometres in size, having optical and electronic properties that differ from those of larger particles as a result of quantum mechanics. They are a central topic in nanotechnology. When the ...
s), and nuclear imaging agents (
PET radiotracers or
SPECT
Single-photon emission computed tomography (SPECT, or less commonly, SPET) is a nuclear medicine tomographic imaging technique using gamma rays. It is very similar to conventional nuclear medicine planar imaging using a gamma camera (that is ...
agents).
or in vitro lab test including
DNA sequencing
DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. T ...
and often involve
deep learning
Deep learning (also known as deep structured learning) is part of a broader family of machine learning methods based on artificial neural networks with representation learning. Learning can be supervised, semi-supervised or unsupervised.
...
algorithms that weigh the result of testing for several
biomarker
In biomedical contexts, a biomarker, or biological marker, is a measurable indicator of some biological state or condition. Biomarkers are often measured and evaluated using blood, urine, or soft tissues to examine normal biological processes, p ...
s.
In addition to specific treatment, personalised medicine can greatly aid the advancements of preventive care. For instance, many women are already being genotyped for certain mutations in the BRCA1 and BRCA2 gene if they are predisposed because of a family history of breast cancer or ovarian cancer.
As more causes of diseases are mapped out according to mutations that exist within a genome, the easier they can be identified in an individual. Measures can then be taken to prevent a disease from developing. Even if mutations were found within a genome, having the details of their DNA can reduce the impact or delay the onset of certain diseases.
Having the genetic content of an individual will allow better guided decisions in determining the source of the disease and thus treating it or preventing its progression. This will be extremely useful for diseases like
Alzheimer
Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As t ...
's or cancers that are thought to be linked to certain mutations in our DNA.
A tool that is being used now to test efficacy and safety of a drug specific to a targeted patient group/sub-group is
companion diagnostics. This technology is an assay that is developed during or after a drug is made available on the market and is helpful in enhancing the therapeutic treatment available based on the individual.
These companion diagnostics have incorporated the pharmacogenomic information related to the drug into their prescription label in an effort to assist in making the most optimal treatment decision possible for the patient.
Drug development and usage
Having an individual's genomic information can be significant in the process of developing drugs as they await approval from the FDA for public use. Having a detailed account of an individual's genetic make-up can be a major asset in deciding if a patient can be chosen for inclusion or exclusion in the final stages of a clinical trial.
Being able to identify patients who will benefit most from a clinical trial will increase the safety of patients from adverse outcomes caused by the product in testing, and will allow smaller and faster trials that lead to lower overall costs.
In addition, drugs that are deemed ineffective for the larger population can gain approval by the FDA by using personal genomes to qualify the effectiveness and need for that specific drug or therapy even though it may only be needed by a small percentage of the population.,
Physicians commonly use a trial and error strategy until they find the treatment therapy that is most effective for their patient.
With personalized medicine, these treatments can be more specifically tailored by predicting how an individual's body will respond and if the treatment will work based on their genome.
This has been summarized as "therapy with the right drug at the right dose in the right patient."
Such an approach would also be more cost-effective and accurate.
For instance,
Tamoxifen
Tamoxifen, sold under the brand name Nolvadex among others, is a selective estrogen receptor modulator used to prevent breast cancer in women and treat breast cancer in women and men. It is also being studied for other types of cancer. It has b ...
used to be a drug commonly prescribed to women with ER+ breast cancer, but 65% of women initially taking it developed resistance. After research by people such as
David Flockhart, it was discovered that women with certain mutation in their
CYP2D6 gene, a gene that encodes the metabolizing enzyme, were not able to efficiently break down Tamoxifen, making it an ineffective treatment for them.
Women are now genotyped for these specific mutations to select the most effective treatment.
Screening for these mutations is carried out via
high-throughput screening or
phenotypic screening
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological prop ...
. Several
drug discovery
In the fields of medicine, biotechnology and pharmacology, drug discovery is the process by which new candidate medications are discovered.
Historically, drugs were discovered by identifying the active ingredient from traditional remedies or b ...
and
pharmaceutical
A medication (also called medicament, medicine, pharmaceutical drug, medicinal drug or simply drug) is a drug used to diagnose, cure, treat, or prevent disease. Drug therapy ( pharmacotherapy) is an important part of the medical field and ...
companies are currently utilizing these technologies to not only advance the study of personalised medicine, but also to amplify
genetic research. Alternative
multi-target approaches to the traditional approach of
"forward" transfection library
A library is a collection of materials, books or media that are accessible for use and not just for display purposes. A library provides physical (hard copies) or digital access (soft copies) materials, and may be a physical location or a vi ...
screening can entail
reverse transfection or
chemogenomics
Chemogenomics, or chemical genomics, is the systematic screening of targeted chemical libraries of small molecules against individual drug target families (e.g., GPCRs, nuclear receptors, kinases, proteases, etc.) with the ultimate goal of iden ...
.
Pharmacy
compounding
In the field of pharmacy, compounding (performed in compounding pharmacies) is preparation of a custom formulation of a medication to fit a unique need of a patient that cannot be met with commercially available products. This may be done for me ...
is another application of personalised medicine. Though not necessarily using genetic information, the customized production of a drug whose various properties (e.g. dose level, ingredient selection, route of administration, etc.) are selected and crafted for an individual patient is accepted as an area of personalised medicine (in contrast to mass-produced
unit dose
Dosage forms (also called unit doses) are pharmaceutical drug products in the form in which they are marketed for use, with a specific mixture of active ingredients and inactive components (excipients), in a particular configuration (such as a cap ...
s or
fixed-dose combinations). Computational and mathematical approaches for predicting
drug interaction
Drug interactions occur when a drug's mechanism of action is disturbed by the concomitant administration of substances such as foods, beverages, or other drugs. The cause is often the inhibition of the specific receptors available to the drug, ...
s are also being developed. For example,
phenotypic response surfaces model the relationships between drugs, their interactions, and an individual's biomarkers.
One active area of research is efficiently delivering personalized drugs generated from pharmacy compounding to the disease sites of the body.
For instance, researchers are trying to engineer nanocarriers that can precisely target the specific site by using real-time imaging and analyzing the
pharmacodynamics
Pharmacodynamics (PD) is the study of the biochemical and physiologic effects of drugs (especially pharmaceutical drugs). The effects can include those manifested within animals (including humans), microorganisms, or combinations of organisms ...
of the
drug delivery.
Several candidate nanocarriers are being investigated, such as
iron oxide nanoparticle
Iron oxide nanoparticles are iron oxide particles with diameters between about 1 and 100 nanometers. The two main forms are magnetite () and its oxidized form maghemite (γ-). They have attracted extensive interest due to their superparamagnetic ...
s,
quantum dots,
carbon nanotube
A scanning tunneling microscopy image of a single-walled carbon nanotube
Rotating single-walled zigzag carbon nanotube
A carbon nanotube (CNT) is a tube made of carbon with diameters typically measured in nanometers.
''Single-wall carbon na ...
s,
gold nanoparticles, and silica nanoparticles.
Alteration of surface chemistry allows these nanoparticles to be loaded with drugs, as well as to avoid the body's immune response, making nanoparticle-based theranostics possible.
Nanocarriers' targeting strategies are varied according to the disease. For example, if the disease is cancer, a common approach is to identify the biomarker expressed on the surface of cancer cells and to load its associated targeting vector onto nanocarrier to achieve recognition and binding; the size scale of the nanocarriers will also be engineered to reach the
enhanced permeability and retention effect (EPR) in tumor targeting.
If the disease is localized in the specific organ, such as the kidney, the surface of the nanocarriers can be coated with a certain
ligand
In coordination chemistry, a ligand is an ion or molecule (functional group) that binds to a central metal atom to form a coordination complex. The bonding with the metal generally involves formal donation of one or more of the ligand's elect ...
that binds to the receptors inside that organ to achieve organ-targeting drug delivery and avoid non-specific uptake. Despite the great potential of this nanoparticle-based drug delivery system, the significant progress in the field is yet to be made, and the nanocarriers are still being investigated and modified to meet clinical standards.
Theranostics
Theranostics is a personalised approach to treating cancer, using similar molecules for both imaging (diagnosis) and therapy. The word "theranostics" is derived from the combination of the words "therapeutics" and "diagnostics". It is now most commonly applied to the field of nuclear medicine where radioactive molecules are attached to gamma or positron emitters for SPECT or PET imaging, and to beta, alpha or Auger electrons for therapy. One of the earliest examples is the use of radioactive iodine for treatment of patients with thyroid cancer. Other examples include radio-labelled anti-CD20 antibodies (e.g.
Bexxar) for treating lymphoma,
Radium-223 for treating bone metastases,
Lutetium-177 DOTATATE for treating neuroendocrine tumours and Lutetium-177 PSMA for treating prostate cancer. The most commonly used reagent is
Fluorodeoxyglucose, using the isotope
fluorine-18
Radiotheranostics
Radiotheranostics is a subspecialty of theranostics using similar pharmaceuticals for both imaging and therapy with radiation. The pharmaceutical or mechanism of localization/action remains the same with the radionuclide being interchangeable with the diagnostic radiopharmaceutical often being a gamma or PET emitter, and the therapeutic radiopharmaceutical often being a beta or alpha emitter. The terms theranostics and theragnostics are interchangeable terms with both having the same meaning and intent. Similar terms radiotheranostics and radiotheragnostics are interchangeable as well. The terms are derived from the Greek words "thera" from "therapeia" meaning healing or to heal, e.g. therapy, and "gnostic" from Greek "gnos" meaning knowledge and to know, e.g. diagnostic. Dosimetry is commonly used to guide clinicians for a personalised/precision therapeutic amount for each patient.
Respiratory proteomics
![Protein pattern analyzer (1)](https://upload.wikimedia.org/wikipedia/commons/a/a4/Protein_pattern_analyzer_%281%29.jpg)
Respiratory diseases affect humanity globally, with chronic lung diseases (e.g., asthma, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, among others) and lung cancer causing extensive morbidity and mortality. These conditions are
highly heterogeneous and require an early diagnosis. However, initial symptoms are nonspecific, and the clinical diagnosis is made late frequently. Over the last few years, personalized medicine has emerged as a medical care approach that uses novel technology aiming to personalize treatments according to the particular patient's medical needs. In specific,
proteomics
Proteomics is the large-scale study of proteins. Proteins are vital parts of living organisms, with many functions such as the formation of structural fibers of muscle tissue, enzymatic digestion of food, or synthesis and replication of DNA. I ...
is used to analyze a series of protein expressions, instead of a single
biomarker
In biomedical contexts, a biomarker, or biological marker, is a measurable indicator of some biological state or condition. Biomarkers are often measured and evaluated using blood, urine, or soft tissues to examine normal biological processes, p ...
.
Proteins control the body's biological activities including health and disease, so proteomics is helpful in early diagnosis. In the case of respiratory disease, proteomics analyzes several biological samples including serum, blood cells,
bronchoalveolar lavage fluid
Bronchoalveolar lavage (BAL) (also known as bronchoalveolar washing) is a diagnostic method of the lower respiratory system in which a bronchoscope is passed through the mouth or nose into an appropriate airway in the lungs, with a measured amount ...
s (BAL),
nasal lavage fluids (NLF), sputum, among others.
The identification and quantification of complete protein expression from these biological samples are conducted by
mass spectrometry
Mass spectrometry (MS) is an analytical technique that is used to measure the mass-to-charge ratio of ions. The results are presented as a '' mass spectrum'', a plot of intensity as a function of the mass-to-charge ratio. Mass spectrometry is u ...
and advanced analytical techniques. Respiratory proteomics has made significant progress in the development of personalized medicine for supporting health care in recent years. For example, in a study conducted by Lazzari et al. in 2012, the proteomics-based approach has made substantial improvement in identifying multiple biomarkers of lung cancer that can be used in tailoring personalized treatments for individual patients. More and more studies have demonstrated the usefulness of proteomics to provide targeted therapies for respiratory disease.
Cancer genomics
Over recent decades
cancer research
Cancer research is research into cancer to identify causes and develop strategies for prevention, diagnosis, treatment, and cure.
Cancer research ranges from epidemiology, molecular bioscience to the performance of clinical trials to evaluate an ...
has discovered a great deal about the genetic variety of types of cancer that appear the same in traditional
pathology
Pathology is the study of the causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in ...
. There has also been increasing awareness of
tumour heterogeneity
A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
, or genetic diversity within a single tumour. Among other prospects, these discoveries raise the possibility of finding that drugs that have not given good results applied to a general population of cases may yet be successful for a proportion of cases with particular genetic profiles.
"
Personalized Onco-genomics" is the application of personalized medicine to Cancer Genomics, or "
oncogenomics".
High-throughput sequencing methods are used to characterize
genes
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
associated with cancer to better understand disease
pathology
Pathology is the study of the causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in ...
and improve
drug development
Drug development is the process of bringing a new pharmaceutical drug to the market once a lead compound has been identified through the process of drug discovery. It includes preclinical research on microorganisms and animals, filing for re ...
. Oncogenomics is one of the most promising branches of
genomics
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dim ...
, particularly because of its implications in drug therapy. Examples of this include:
*
Trastuzumab
Trastuzumab, sold under the brand name Herceptin among others, is a monoclonal antibody used to treat breast cancer and stomach cancer. It is specifically used for cancer that is HER2 receptor positive. It may be used by itself or together wi ...
(trade names Herclon, Herceptin) is a
monoclonal antibody drug that interferes with the
HER2/neu receptor
Receptor may refer to:
* Sensory receptor, in physiology, any structure which, on receiving environmental stimuli, produces an informative nerve impulse
*Receptor (biochemistry), in biochemistry, a protein molecule that receives and responds to a ...
. Its main use is to treat certain breast cancers. This drug is only used if a patient's cancer is tested for over-expression of the HER2/neu receptor. Two tissue-typing tests are used to screen patients for possible benefit from Herceptin treatment. The tissue tests are
immunohistochemistry
Immunohistochemistry (IHC) is the most common application of immunostaining. It involves the process of selectively identifying antigens (proteins) in cells of a tissue section by exploiting the principle of antibodies binding specifically to an ...
(IHC) and
Fluorescence In Situ Hybridization
Fluorescence ''in situ'' hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only particular parts of a nucleic acid sequence with a high degree of sequence complementarity. It was developed b ...
(FISH) Only Her2+ patients will be treated with Herceptin therapy (trastuzumab)
*
Tyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to the tyrosine residues of specific proteins inside a cell. It functions as an "on" or "off" switch in many cellular functions.
Tyrosine kinases belong to a larger cla ...
inhibitors such as
imatinib
Imatinib, sold under the brand names Gleevec and Glivec (both marketed worldwide by Novartis) among others, is an oral chemotherapy medication used to treat cancer. Imatinib is a small molecule inhibitor targeting multiple receptor tyrosine kin ...
(marketed as Gleevec) have been developed to treat
chronic myeloid leukemia
Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white blood cells. It is a form of leukemia characterized by the increased and unregulated growth of myeloid cells in the bone marrow and the accumulati ...
(CML), in which the
BCR-ABL
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short becaus ...
fusion gene A fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types of human neopla ...
(the product of a
reciprocal translocation between chromosome 9 and chromosome 22) is present in >95% of cases and produces hyperactivated abl-driven protein signaling. These medications specifically inhibit the Ableson tyrosine kinase (ABL) protein and are thus a prime example of "rational drug design" based on knowledge of disease pathophysiology.
* The FoundationOne CDx report produced by
Foundation Medicine
Foundation Medicine, Inc. is an American company based in Cambridge, Massachusetts, which develops, manufactures, and sells genomic profiling assays based on next-generation sequencing technology for solid tumors, hematologic malignancies, and ...
, which looks at genes in individual patients' tumor biopsies and recommends specific drugs
* High mutation burden is indicative of response to immunotherapy, and also specific patterns of mutations have been associated with previous exposure to cytotoxic cancer drugs.
A research paper published on 26 November 2022 by a group of Scientists, demonstrated that with the help of an Artificial Intelligence Platform, it is found that treatment targeting
PLK1
Serine/threonine-protein kinase PLK1, also known as polo-like kinase 1 (PLK-1) or serine/threonine-protein kinase 13 (STPK13), is an enzyme that in humans is encoded by the ''PLK1'' ( polo-like kinase 1) gene.
Structure
PLK1 consists of 603 am ...
is a potential therapeutic approach for selected sarcoma patients whose tumor is highly expressed with CEP135.
Population screening
Through the use of genomics (
microarray),
proteomics
Proteomics is the large-scale study of proteins. Proteins are vital parts of living organisms, with many functions such as the formation of structural fibers of muscle tissue, enzymatic digestion of food, or synthesis and replication of DNA. I ...
(tissue array), and imaging (
fMRI
Functional magnetic resonance imaging or functional MRI (fMRI) measures brain activity by detecting changes associated with blood flow. This technique relies on the fact that cerebral blood flow and neuronal activation are coupled. When an area o ...
,
micro-CT
X-ray microtomography, like tomography and X-ray computed tomography, uses X-rays to create cross-sections of a physical object that can be used to recreate a virtual model (3D model) without destroying the original object. The prefix ''micro-'' ...
) technologies, molecular-scale information about patients can be easily obtained. These so-called molecular biomarkers have proven powerful in disease prognosis, such as with cancer. The main three areas of cancer prediction fall under cancer recurrence, cancer susceptibility and cancer survivability.
Combining molecular scale information with macro-scale clinical data, such as patients' tumor type and other risk factors, significantly improves prognosis.
Consequently, given the use of molecular biomarkers, especially genomics, cancer prognosis or prediction has become very effective, especially when screening a large population.
Essentially, population genomics screening can be used to identify people at risk for disease, which can assist in preventative efforts.
Genetic data can be used to construct
polygenic scores, which estimate traits such as disease risk by summing the estimated effects of individual variants discovered through a GWAS. These have been used for a wide variety of conditions, such as cancer, diabetes, and coronary artery disease.
Many genetic variants are associated with ancestry, and it remains a challenge to both generate accurate estimates and to decouple biologically relevant variants from those that are coincidentally associated. Estimates generated from one population do not usually transfer well to others, requiring sophisticated methods and more diverse and global data.
Most studies have used data from those with European ancestry, leading to calls for more equitable genomics practices to reduce health disparities.
Additionally, while polygenic scores have some predictive accuracy, their interpretations are limited to estimating an individual's
percentile
In statistics, a ''k''-th percentile (percentile score or centile) is a score ''below which'' a given percentage ''k'' of scores in its frequency distribution falls (exclusive definition) or a score ''at or below which'' a given percentage falls ...
and
translational research
Translational research (also called translation research, translational science, or, when the context is clear, simply translation) is research aimed at translating (converting) results in basic research into results that directly benefit humans. ...
is needed for clinical use.
Challenges
As personalised medicine is practiced more widely, a number of challenges arise. The current approaches to intellectual property rights, reimbursement policies, patient privacy, data biases and confidentiality as well as regulatory oversight will have to be redefined and restructured to accommodate the changes personalised medicine will bring to healthcare.
For instance, a survey performed in the UK concluded that 63% of UK adults are not comfortable with their personal data being used for the sake of utilizing AI in the medical field.
Furthermore, the analysis of acquired diagnostic
data
In the pursuit of knowledge, data (; ) is a collection of discrete values that convey information, describing quantity, quality, fact, statistics, other basic units of meaning, or simply sequences of symbols that may be further interpreted ...
is a recent challenge of personalized medicine and its implementation.
For example, genetic data obtained from
next-generation sequencing Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation s ...
requires computer-intensive
data processing
Data processing is the collection and manipulation of digital data to produce meaningful information.
Data processing is a form of ''information processing'', which is the modification (processing) of information in any manner detectable by an ...
prior to its analysis.
In the future, adequate tools will be required to accelerate the adoption of personalised medicine to further fields of medicine, which requires the interdisciplinary cooperation of experts from specific fields of research, such as
medicine
Medicine is the science and practice of caring for a patient, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care pract ...
, clinical
oncology
Oncology is a branch of medicine that deals with the study, treatment, diagnosis and prevention of cancer. A medical professional who practices oncology is an ''oncologist''. The name's etymological origin is the Greek word ὄγκος (''ó ...
,
biology
Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary i ...
, and
artificial intelligence
Artificial intelligence (AI) is intelligence—perceiving, synthesizing, and inferring information—demonstrated by machines, as opposed to intelligence displayed by animals and humans. Example tasks in which this is done include speech re ...
.
Regulatory oversight
The FDA has already started to take initiatives to integrate personalised medicine into their regulatory policies. An FDA report in October 2013 entitled, "''Paving the Way for Personalized Medicine: FDA's role in a New Era of Medical Product Development''," in which they outlined steps they would have to take to integrate genetic and biomarker information for clinical use and drug development.
They determined that they would have to develop specific regulatory science standards, research methods, reference material and other tools in order to incorporate personalised medicine into their current regulatory practices. For example, they are working on a "genomic reference library" for regulatory agencies to compare and test the validity of different sequencing platforms in an effort to uphold reliability.
A major challenge for those regulating personalized medicine is a way to demonstrate its effectiveness relative to the current standard of care. The new technology must be assessed for both clinical and cost effectiveness, and as it stands, regulatory agencies have no standardized method.
Intellectual property rights
As with any innovation in medicine, investment and interest in personalised medicine is influenced by intellectual property rights.
There has been a lot of controversy regarding patent protection for diagnostic tools, genes, and biomarkers.
In June 2013, the U.S Supreme Court ruled that natural occurring genes cannot be patented, while "synthetic DNA" that is edited or artificially- created can still be patented. The Patent Office is currently reviewing a number of issues related to patent laws for personalised medicine, such as whether "confirmatory" secondary genetic tests post initial diagnosis, can have full immunity from patent laws. Those who oppose patents argue that patents on DNA sequences are an impediment to ongoing research while proponents point to
research exemption In patent law, the research exemption or safe harbor exemption is an exemption to the rights conferred by patents, which is especially relevant to drugs. According to this exemption, despite the patent rights, performing research and tests for prepa ...
and stress that patents are necessary to entice and protect the financial investments required for commercial research and the development and advancement of services offered.
Reimbursement policies
Reimbursement policies will have to be redefined to fit the changes that personalised medicine will bring to the healthcare system. Some of the factors that should be considered are the level of efficacy of various genetic tests in the general population, cost-effectiveness relative to benefits, how to deal with payment systems for extremely rare conditions, and how to redefine the insurance concept of "shared risk" to incorporate the effect of the newer concept of "individual risk factors".
The study, ''Barriers to the Use of Personalized Medicine in Breast Cancer'', took two different diagnostic tests which are BRACAnalysis and Oncotype DX. These tests have over ten-day turnaround times which results in the tests failing and delays in treatments. Patients are not being reimbursed for these delays which results in tests not being ordered. Ultimately, this leads to patients having to pay out-of-pocket for treatments because insurance companies do not want to accept the risks involved.
Patient privacy and confidentiality
Perhaps the most critical issue with the commercialization of personalised medicine is the protection of patients. One of the largest issues is the fear and potential consequences for patients who are predisposed after genetic testing or found to be non-responsive towards certain treatments. This includes the psychological effects on patients due to genetic testing results. The right of family members who do not directly consent is another issue, considering that genetic predispositions and risks are inheritable. The implications for certain ethnic groups and presence of a common allele would also have to be considered.
Moreover, we could refer to the privacy issue at all layers of personalized medicine from discovery to treatment. One of the leading issues is the consent of the patients to have their information used in genetic testing algorithms primarily AI algorithms. The consent of the institution who is providing the data to be used is of prominent concern as well.
In 2008, the Genetic Information Nondiscrimination Act (GINA) was passed in an effort to minimize the fear of patients participating in genetic research by ensuring that their genetic information will not be misused by employers or insurers.
On February 19, 2015, FDA issued a press release titled: "FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome.
Data biases
Data biases also play an integral role in personalized medicine. It is important to ensure that the sample of genes being tested come from different populations. This is to ensure that the samples do not exhibit the same human biases we use in decision making.
Consequently, if the designed algorithms for personalized medicine are biased, then the outcome of the algorithm will also be biased because of the lack of genetic testing in certain populations. For instance, the results from the Framingham Heart Study have led to biased outcomes of predicting the risk of cardiovascular disease. This is because the sample was tested only on white people and when applied to the non-white population, the results were biased with overestimation and underestimation risks of cardiovascular disease.
Implementation
Several issues must be addressed before personalized medicine can be implemented. Very little of the human genome has been analyzed, and even if healthcare providers had access to a patient's full genetic information, very little of it could be effectively leveraged into treatment. Challenges also arise when processing such large amounts of genetic data. Even with error rates as low as 1 per 100 kilobases, processing a human genome could have roughly 30,000 errors.
This many errors, especially when trying to identify specific markers, can make discoveries and verifiability difficult. There are methods to overcome this, but they are computationally taxing and expensive. There are also issues from an effectiveness standpoint, as after the genome has been processed, function in the variations among genomes must be analyzed using genome-wide studies. While the impact of the SNPs discovered in these kinds of studies can be predicted, more work must be done to control for the vast amounts of variation that can occur because of the size of the genome being studied.
In order to effectively move forward in this area, steps must be taken to ensure the data being analyzed is good, and a wider view must be taken in terms of analyzing multiple SNPs for a phenotype. The most pressing issue that the implementation of personalized medicine is to apply the results of genetic mapping to improve the healthcare system. This is not only due to the infrastructure and technology required for a centralized database of genome data, but also the physicians that would have access to these tools would likely be unable to fully take advantage of them.
In order to truly implement a personalized medicine healthcare system, there must be an end-to-end change.
The
Copenhagen Institute for Futures Studies
The Copenhagen Institute for Futures Studies (Danish: ''Instituttet for Fremtidsforskning'') is a Danish not-for-profit, independent futures think tank founded in 1969 by Thorkil Kristensen, former OECD Secretary-General for the betterment of our ...
and
Roche
F. Hoffmann-La Roche AG, commonly known as Roche, is a Swiss multinational healthcare company that operates worldwide under two divisions: Pharmaceuticals and Diagnostics. Its holding company, Roche Holding AG, has shares listed on the SIX ...
set up FutureProofing Healthcare which produces a Personalised Health Index, rating different countries performance against 27 different indicators of personalised health across four categories called 'Vital Signs'. They have run conferences in many countries to examine their findings.
See also
*
Cancer genome sequencing Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s). ...
*
Chemogenomics
Chemogenomics, or chemical genomics, is the systematic screening of targeted chemical libraries of small molecules against individual drug target families (e.g., GPCRs, nuclear receptors, kinases, proteases, etc.) with the ultimate goal of id ...
*
Companion diagnostic
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic te ...
*
Drug discovery
*
Elective genetic and genomic testing
Elective may refer to:
*Choice, the mental process of judging the merits of multiple options and selecting one of them
*Elective course in education
** Elective (medical), a period of study forming part of a medical degree
* In medical procedures, ...
*
Evidence-based medicine
Evidence-based medicine (EBM) is "the conscientious, explicit and judicious use of current best evidence in making decisions about the care of individual patients". The aim of EBM is to integrate the experience of the clinician, the values of t ...
*
Foundation Medicine
Foundation Medicine, Inc. is an American company based in Cambridge, Massachusetts, which develops, manufactures, and sells genomic profiling assays based on next-generation sequencing technology for solid tumors, hematologic malignancies, and ...
*
Molecular medicine
Molecular medicine is a broad field, where physical, chemical, biological, bioinformatics and medical techniques are used to describe molecular structures and mechanisms, identify fundamental molecular and genetic errors of disease, and to develop ...
*
Next-generation sequencing Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation s ...
*
Personal genomics
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphi ...
*
Pharmacodiagnostic testing
*
Pharmacogenetics
Pharmacogenomics is the study of the role of the genome in drug response. Its name ('' pharmaco-'' + ''genomics'') reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects the ...
*
Pharmacogenomics
Pharmacogenomics is the study of the role of the genome in drug response. Its name ('' pharmaco-'' + ''genomics'') reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects the ...
*
Phenotypic screening
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
*
Race and health
Race and health refers to how being identified with a specific race influences health. Race is a complex concept that has changed across chronological eras and depends on both self-identification and social recognition. In the study of race and ...
*
Swiss Personalized Health Network (initiative)
References
External links
Precision Clinical Medicine
{{Authority control
Biomarkers
Biotechnology
Chemical pathology
Medical signs
Medical models
Emerging technologies
Personalized medicine