Public health genomics
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
|
Public health genomics is the use of
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
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. Concerns also exist about the equitable deployment of public health genomics, and attention is needed to ensure that the implementation of genomic medicine does not further entrench social‐equity concerns.[4]
Ethical concerns
One of the many facets involved in public health genomics is that of
Genetic susceptibility to disease
Some current tests for genetic diseases include:
Herpesvirus and bacterial infections
Since the field of genomics takes into account the entire genome of an
An example of this is found in a study published in
Influenza and Mycobacterium tuberculosis
Variations within the human genome can be studied to determine susceptibility to infectious diseases. The study of variations within microbial genomes will also need to be evaluated to use genomics of infectious disease within public health. The ability to determine if a person has greater susceptibility to an infectious disease will be valuable to determine how to treat the disease if it is present or prevent the person from getting the disease. Several infectious diseases have shown a link between genetics and susceptibility in that families tend to have heritability traits of a disease.
During the course of the past[
Type 1 Diabetes, immunomics, and public health
The term genomics, referring to the organism's whole genome, is also used to refer to gene informatics, or the collection and storage of genetic data, including the functional information associated with the genes, and the analysis of the data as combinations, patterns and networks by computer algorithms.
Accurate and sensitive prediction of disease, or detection during early stages of disease, could allow the prevention or arrest of disease development as
Meta-analyses have been able to identify additional associated genes,[12] by pooling a number of large gene datasets. This successful study illustrates the importance of compiling and sharing large genome databases. The inclusion of phenotypic data in these databases will enhance discovery of candidate genes, while the addition of environmental and temporal data should be able to advance the disease progression pathways knowledge. HUGENet, which was initiated by the Centers for Disease Control and Prevention (U.S.), is accomplishing the integration of this type of information with the genome data, in a form available for analysis.[13] This project could be thought of as an example of 'metagenomics', the analysis of a community's genome,[14] but for a human rather than a microbial community. This project is intended to promote international data sharing and collaboration, in addition to creating a standard and framework for the collection of this data.
Nonsyndromic hearing loss
Variations within the human genome are being studied to determine susceptibility to chronic diseases, as well as infectious diseases. According to Aileen Kenneson and Coleen Boyle, about one sixth of the U.S. population has some degree of hearing loss.[15] Recent research has linked variants in the gap junction beta 2 (GJB2) gene to nonsyndromic prelingual sensorineural hearing loss. GJB2 is a gene encoding for connexin, a protein found in the cochlea. Scientists have found over 90 variants in this gene and sequence variations may account for up to 50% of nonsyndromic hearing loss. Variants in GJB2 are being used to determine age of onset, as well as severity of hearing loss.
It is clear that there are also environmental factors to consider. Infections such as rubella and meningitis and low birth weight and artificial ventilation, are known risk factors for hearing loss, but perhaps knowing this, as well as genetic information, will help with early intervention.
Information gained from further research in the role of GJB2 variants in hearing loss may lead to newborn screening for them. As early intervention is crucial to prevent developmental delays in children with hearing loss, the ability to test for susceptibility in young children would be beneficial. Knowing genetic information may also help in the treatment of other diseases if a patient is already at risk.
Further testing is needed, especially in determining the role of GJB2 variants and environmental factors on a population level, however initial studies show promise when using genetic information along with newborn screening.
Genomics and health
Pharmacogenomics
The World Health Organization has defined pharmacogenomics as the study of DNA sequence variation as it relates to different drug responses in individuals, i.e., the use of genomics to determine an individual's response. Pharmacogenomics refers to the use of DNA-based genotyping in order to target pharmaceutical agents to specific patient populations in the design of drugs.[6][16]
Current estimates state that 2 million hospital patients are affected by adverse drug reactions every year and
Nutrition and health
Nutrition is very important in determining various states of health. The field of
An example of the role of nutrition would be the
In 2002, researchers from the
Healthcare and genomics
Members of the public are continually asking how obtaining their genetic blueprint will benefit them, and why they find that they are more susceptible to diseases that have no cures.
Researchers have found that almost all disorders and diseases that affect
Potential benefits of uncovering the human genome will be focused more on identifying causes of disease and less on treating disease, through: improved diagnostic methods, earlier detection of a predisposing genetic variation, pharmacogenomics and gene therapy.[24]
For each individual, the experience of discovering and knowing their genetic make-up will be different. For some individuals, they will be given the assurance of not obtaining a disease, as a result of familial genes, in which their family has a strong history and some will be able to seek out better medicines or therapies for a disease they already have. Others will find they are more susceptible to a disease that has no cure. Though this information maybe painful, it will give them the opportunity to prevent or delay the on-set of that disease through: increased education of the disease, making
Genomics and understanding of disease susceptibility can help validate family history tool for use by practitioners and the public. IOM is validating the family history tool for six common chronic diseases (breast, ovarian, colorectal cancer, diabetes, heart disease, stroke) (IOM Initiative). Validating cost effective tools can help restore importance of basic medical practices (e.g. family history) in comparison to technology intensive investigations.[2]
The genomic face of immune responses
A critical set of phenomena that ties together various aspects of health interventions, such as drug sensitivity screening, cancer or autoimmune susceptibility screening, infectious disease prevalence and application of pharmacologic or nutrition therapies, is the systems biology of the immune response. For example, the influenza epidemic of 1918, as well as the recent cases of human fatality due to H5N1 (avian flu), both illustrate the potentially dangerous sequence of immune responses to this virus. Also well documented is the only case of spontaneous "immunity" to HIV in humans, shown to be due to a mutation in a surface protein on CD4 T cells, the primary targets of HIV. The immune system is truly a sentinel system of the body, with the result that health and disease are carefully balanced by the modulated response of each of its various parts, which then also act in concert as a whole. Especially in industrialized and rapidly developing economies, the high rate of allergic and reactive respiratory disease, autoimmune conditions and cancers are also in part linked to aberrant immune responses that are elicited as the communities' genomes encounter swiftly changing environments. The causes of perturbed immune responses run the gamut of genome-environment interactions due to diet, supplements, sun exposure, workplace exposures, etc. Public health genomics as a whole will absolutely require a rigorous understanding of the changing face of immune responses.
Newborn screening
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
Most of the conditions identified in newborn screening are
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".[23]
Because the risks and benefits of genomic sequencing for newborns are still not fully understood, the BabySeq Project, led by Robert C. Green of Brigham and Women's Hospital and Alan H. Beggs of Boston Children's Hospital (BCH) has been gathering critical research on newborn sequencing since 2015 as part of the Newborn Sequencing In Genomic medicine and public HealTh consortium (NSIGHT), which received a five-year grant of $25 million from the National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI).[26][27][28]
Understanding traditional healing practices
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.[29]
See also
References
- ^ Bellagio Group on Public Health Genomics. "Genome-based Research and Population Health" (PDF). Archived from the original on January 7, 2008. Retrieved 3 September 2015.
{{cite web}}
: CS1 maint: unfit URL (link) - ^ a b "Genomics and Population Health 2005". Retrieved 3 September 2015.
- ^ "A Time-Line of Genetic Discrimination Legislation, 1990–2005". Archived from the original on March 24, 2008. Retrieved 3 September 2015.
{{cite web}}
: CS1 maint: unfit URL (link) - PMID 30830712.
- ^ "New Survey Shows Americans Want Genetic Information in Health Care, But Fear Privacy, Ethical, Emotional Implications". 3 November 2005. Archived from the original on May 22, 2011. Retrieved 3 September 2015.
{{cite web}}
: CS1 maint: unfit URL (link) - ^ a b Nuffield Council on Bioethics (20 September 2003). "Pharmacogenetics: Ethical Issues". Archived from the original on March 3, 2007. Retrieved 3 September 2015.
{{cite web}}
: CS1 maint: unfit URL (link) - PMID 31024880.
- S2CID 4425405.
- PMID 17124016.
- ^ PMID 17094741.
- PMID 25841342.
- PMID 11507694.
- S2CID 863513.
- ISBN 978-0309106764.
- ISBN 978-0195146745.
- ^ "Ethical, Legal and Social Implications (ELSI) of human genomics". Archived from the original on June 18, 2004. Retrieved 3 September 2015.
- ^ "Genomics and Its Impact on Science and Society – Oak Ridge National Laboratory" (PDF). Archived from the original (PDF) on 26 September 2012. Retrieved 3 September 2015.
- S2CID 41982075.
- PMID 11953142.)
{{cite journal}}
: CS1 maint: multiple names: authors list (link - ^ "Researchers Identify First Genomic Blueprint of Cancer-Preventive Compound Found in Broccoli". 16 September 2002. Retrieved 3 September 2015.
- PMID 12234984.
- PMID 12368383.
- ^ ISBN 978-0879697198.
- ^ "ARCHIVE: Potential Benefits of HGP Research". Archived from the original on 8 July 2013. Retrieved 3 September 2015.
- ^ "The path from genome-based research to population health: Development of an international public health genomics network" (PDF). July 2006. Archived from the original on July 10, 2007. Retrieved 3 September 2015.
{{cite web}}
: CS1 maint: unfit URL (link) - ^ Fox, Maggie; Ali Galante; Kori Lynch (4 January 2019). "Genetic screening for newborns yields some answers, more questions". NBC News. Retrieved May 6, 2021.
- ^ Green, Robert. "Genetically Sequencing Healthy Babies Yielded Surprising Results". Leaps. Retrieved May 6, 2021.
- PMID 30651610.
- PMID 17708604.
Bibliography
- "Genome-based Research and Population Health. Report of an expert workshop held at the Rockefeller Foundation Study and Conference Center, Bellagio, Italy, 14–20 April 2005" (PDF). Archived from the original on January 7, 2008. Retrieved 3 September 2015.
{{cite web}}
: CS1 maint: unfit URL (link) - Brand, A; et al. (2006). "Getting Ready for the Future: Integration of Genomics into Public Health Research, Policy and Practice in Europe and Globally". Community Genetics. 9 (1): 67–71. S2CID 22952412.
- Burke, W (July 2006). "The path from genome-based research to population health: Development of an international public health genomics network". Genetics in Medicine. 8 (7): 451–458. S2CID 863513.
- Khoury, MJ (December 1996). "From Genes to Public Health: The Applications of Genetic Technology in Disease Prevention". American Journal of Public Health. 86 (12): 1717–1722. PMID 9003127.
- ten Kate LP: Editorial. Community Genet 1998; 1: 1–2.[1]
- Beauchamp, Tom L.; et al. (2001). Principles of Biomedical Ethics (5th ed.). New York: Oxford University Press. ISBN 978-0195143324.
- Kandun, IN; et al. (23 November 2006). "Three Indonesian Clusters of H5N1 Virus Infection in 2005". New England Journal of Medicine. 355 (21): 2186–2194. PMID 17124016.
- Hill, Adrian V.S. (2006). "Aspects of Genetic Susceptibility to Human Infectious Diseases". Annual Review of Genetics. 40: 469–486. PMID 17094741.
- Bellamy, R (April 2006). "Genome-wide approaches to identifying genetic factors in host susceptibility to tuberculosis". Microbes and Infection. 8 (4): 1119–1123. PMID 16513396.
Further reading
- "Australian and New Zealand Journal of Public Health home". Australian and New Zealand Journal of Public Health.
- "Canadian Journal of Public Health home". Canadian Journal of Public Health. Archived from the original on 2010-11-21. Retrieved 2008-12-29.
- "Scandinavian Journal of Public Health home". Scandinavian Journal of Public Health. ISSN 1651-1905.