HOME
        TheInfoList






Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient.[1] According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.[2]

This field of public health genomics is less than a decade old. A number of think tanks, universities, and governments (including the U.S., UK, and Australia) have started public health genomics projects. Research on the human genome is generating new knowledge that is changing public health programs and policies. Advances in genomic sciences are increasingly being used to improve health, prevent disease, educate and train the public health workforce, other healthcare providers, and citizens.

Public policy

Public policy has protected people against genetic discrimination, defined in Taber's Cyclopedic Medical Dictionary (2001) as unequal treatment of persons with either known genetic abnormalities or the inherited propensity for disease; genetic discrimination may have a negative effect on employability, insurability and other socio-economic variables. Public policy in the U.S. that protect individuals and groups of people against genetic discrimination include the Americans with Disabilities Act of 1990, Executive Order 13145 (2000) that prohibits genetic discrimination in the workplace for federal employees,[3] and the Genetic Information Nondiscrimination Act of 2008.

Main public concerns regarding genomic information are that of confidentiality, misuse of information by health plans, employers, and medical practitioners, and the right of access to genetic information.

Ethical concerns

One of the many facets involved in public health genomics is that of bioethics. This has been highlighted in a study in 2005 by Cogent Research, that found when American citizens were asked what they thought the strongest drawback was in using genetic information, they listed "misuse of information/invasion of privacy" as the single most important problem.[4] In 2003, the Nuffield Council on Bioethics published a report, Pharmacogenetics: Ethical Issues. Authors of the document explore four broad categories of ethical and policy issues related to pharmacogenetics: information, resource, equity and control. In the introduction to the report, the authors clearly state that the development and application of pharmacogenetics depend on scientific research, but that policy and administration must provide incentives and restraints to ensure the most productive and just use of this technology.[5] Involving the public in ethical oversight and other ways can improve public trust in public health genomics as well as acceptability of initiatives and ensuring that access to the benefits of genomics research is equitable.[6]

Genetic susceptibility to disease

Single nucleotide polymorphisms (SNPs) are single bases within a gene sequence that differ from that gene's consensus sequence, and are present in a subset of the population. SNPs may have no effect on gene expression, or they can change the function of a gene completely. Resulting gene expression changes can, in some cases, result in disease, or in susceptibility to disease (e.g., viral or bacterial infection).

Some current tests for genetic diseases include: cystic fibrosis, Tay–Sachs disease, amyotrophic lateral sclerosis (ALS), Huntington's disease, high cholesterol, some rare cancers and an inherited susceptibility to cancer. A select few are explored below.

Herpesvirus and bacterial infections

Since the field of genomics takes into account the entire genome of an organism, and not simply its individual genes, the stud of latent viral infection falls into this realm. For example, the DNA of a latent herpesvirus integrates into the host's chromosome and propagates through cell replication, although it is not part of the organism's genome, and was not present at the birth of the individual.

An example of this is found in a study published in Nature, which showed that mice with a latent infection of a herpesvirus were less susceptible to bacterial infections. Murine mice were infected with murine gammaherpesvirus 68 and then challenged with the Listeria monocytogenes bacterium. Mice that had a latent infection of the virus had an increased resistance to the bacteria, but those with a non-latent strain of virus had no change in susceptibility to the bacteria. The study went on to test mice with murine cytomegalovirus, a member of the betaher

This field of public health genomics is less than a decade old. A number of think tanks, universities, and governments (including the U.S., UK, and Australia) have started public health genomics projects. Research on the human genome is generating new knowledge that is changing public health programs and policies. Advances in genomic sciences are increasingly being used to improve health, prevent disease, educate and train the public health workforce, other healthcare providers, and citizens.

Public policy has protected people against genetic discrimination, defined in Taber's Cyclopedic Medical Dictionary (2001) as unequal treatment of persons with either known genetic abnormalities or the inherited propensity for disease; genetic discrimination may have a negative effect on employability, insurability and other socio-economic variables. Public policy in the U.S. that protect individuals and groups of people against genetic discrimination include the Americans with Disabilities Act of 1990, Executive Order 13145 (2000) that prohibits genetic discrimination in the workplace for federal employees,[3] and the Genetic Information Nondiscrimination Act of 2008.

Main public concerns regarding genomic information are that of confidentiality, misuse of information by health plans, employers, and medical practitioners, and the right of access to genetic information.

Ethical concerns

One of the many facets involved in public health genomics is that of bioethics. This has been highlighted in a study in 2005 by Cogent Research, that found when American citizens were asked what they thought the strongest drawback was in using genetic information, they listed "misuse of information/invasion of privacy" as the single most important problem.[4] In 2003, the Nuffield Council on Bioethics published a report, Pharmacogenetics: Ethical Issues. Authors of the document explore four broad categories of ethical and policy issues related to pharmacogenetics: information, resource, equity and control. In the introduction to the report, the authors clearly state that the development and application of pharmacogenetics depend on scientific research, but that policy and administration must provide incentives and restraints to ensure the most productive and just use of this technology.[5] Involving the public in ethical oversight and other ways can improve public trust in public health genomics as well as acceptability of initiatives and ensuring that access to the benefits of genomics research is equitable.[6]

Genetic susceptibility to disease

Single nucleotide polymorphisms (SNPs) are single bases within a gene sequence that differ from that gene's consensus sequence, and are present in a subset of the population. SNPs may have no effect on gene expression, or they can change the function of a gene completely. Resulting gene expression changes can, in some cases, result in disease, or in susceptibility to disease (e.g., viral or bacterial infection).

Some current tests for genetic diseases include: cystic fibrosis, Tay–Sachs disease, amyotrophic lateral sclerosis (ALS), Huntington's disease, right of access to genetic information.

One of the many facets involved in public health genomics is that of bioethics. This has been highlighted in a study in 2005 by Cogent Research, that found when American citizens were asked what they thought the strongest drawback was in using genetic information, they listed "misuse of information/invasion of privacy" as the single most important problem.[4] In 2003, the Nuffield Council on Bioethics published a report, Pharmacogenetics: Ethical Issues. Authors of the document explore four broad categories of ethical and policy issues related to pharmacogenetics: information, resource, equity and control. In the introduction to the report, the authors clearly state that the development and application of pharmacogenetics depend on scientific research, but that policy and administration must provide incentives and restraints to ensure the most productive and just use of this technology.[5] Involving the public in ethical oversight and other ways can improve public trust in public health genomics as well as acceptability of initiatives and ensuring that access to the benefits of genomics research is equitable.[6]

Genetic susceptibility to disease

The experience of The experience of newborn screening serves as the introduction to public health genomics for many people. If they did not undergo prenatal genetic testing, having their new baby undergo a heel stick in order to collect a small amount of blood may be the first time an individual or couple encounters genetic testing. Newborn genetic screening is a promising area in public health genomics that appears poised to capitalize on the public health goal of disease prevention as a primary form of treatment.

Most of the diseases that are screened for are extremely rare, single-gene disorders that are often autosomal recessive conditions and are not readily identifiable in neonates without these types of tests. Therefore, often the treating physician has

Most of the diseases that are screened for are extremely rare, single-gene disorders that are often autosomal recessive conditions and are not readily identifiable in neonates without these types of tests. Therefore, often the treating physician has never seen a patient with the disease or condition and so an immediate referral to a specialty clinic is necessary for the family.

Most of the conditions identified in newborn screening are metabolic disorders that either involve i) lacking an enzyme or the ability to metabolize (or breakdown) a particular component of the diet, like phenylketonuria, ii) abnormality of some component of the blood, especially the hemoglobin protein, or iii) alteration of some component of the endocrine system, especially the thyroid gland. Many of these disorders, once identified, can be treated before more severe symptoms, such as mental retardation or stunted growth, set in.

Newborn genetic screening is an area of tremendous growth. In the early 1960s, the only test was for phenylketonuria. In 2000, roughly two-thirds of states in the US screened for 10 or fewer genetic diseases in newborns. Notably, in 2007, 95% of states in the US screen for more than 30 different genetic diseases in newborns. Especially as costs have come down, newborn genetic screening offers “an excellent return on the expenditure of public health dollars.”[22]

Genomics will help develop an understanding of the practices that have evolved over centuries in old civilizations and which have been strengthened by observations (phenotype presentations) from generation to generation, but which lack documentation and scientific evidence. Traditional healers associated specific body types with resistance or susceptibility to particular diseases under specific conditions. Validation and standardization of this knowledge/ practices has not yet been done by modern science. Genomics, by associating genotypes with the phenotypes on which these practices were based, could provide key tools to advance the scientific understanding of some of these traditional healing practices.[25]

See also