For those of you reading this who are familiar with my research interests or career goals, you know that I am driven by a passion for not only cool science, but scientific literacy, specifically in genomics and genetics. For those of you who don’t know me, let me explain.
The evolving conversation surrounding clinical applications of next generation sequencing (NGS) and the increasing prevalence of personal genetic data, should encourage the medical community to assess available public health resources for underprivileged populations subject to health disparities. Thus, there is an immediate opportunity to prepare for the future, and to be proactive in developing infrastructure, tools, and resources to circumvent health disparities in personal genetic knowledge. One such proactive effort, which I believe to be the responsibility of educators, physicians, and basic scientists alike, is investment in genetic and genomic literacy. I believe I can begin contributing to this effort now by promoting genetic literacy and providing genetic education through this blog.
This issue is especially close to my heart because I was born and raised in a rural North Carolina town where many residents are socio-economically disadvantaged, which affects both education levels and access to health care. In the coming years, residents in my hometown and elsewhere in the United States will begin to receive personal genetic test results, which have the exciting ability to improve the medical experience from diagnosis to prognosis. However, for genetic testing to benefit everyone equally, we must begin now to promote genetic literacy broadly.
It is unclear how rural or resource-poor hospitals will be equipped to provide the best clinical sequencing, communication of results, and corresponding medical care. Furthermore, what resources will be offered to explain genetic diseases, inheritance, and disease susceptibility to the layperson that has no background in this field, and very little knowledge of, or access to, health care in general? I would like my career path to position me to make a significant contribution in these areas. I am a current member of the NIH Academy, an effort by the National Institutes of Health to encourage pre-graduate scientists to combat health disparities in their careers. My experiences through this program have inspired me to create and maintain this blog.
As a disclaimer, I am not a Ph.D. scientist, an expert, nor a medical professional. I am simply a pre-graduate scientist who loves genetics, and likes to talk…or write as the case may be. I will not always have a complete perspective on a topic nor be 100% accurate in my explanations. I hope to provide answers to genetic questions for which I am familiar, and to perform the research and provide resources for those questions for which I may not know a straightforward answer.
A recent review in Nature Genetics by Drs. Sara and Nicholas Katsanis[i] eloquently summarizes the need for genetic education:
“Keeping pace with merging clinical genetic technologies requires specialized genetic training as well as broad genetic literacy for patients and clinicians ordering and receiving genetic test results. In reality, genetics literacy in the United States is sorely lacking from elementary school through to medical training. By and large, the US public views genetics through the lens of genetic determinism. For the public to gain an understanding of polygenic inheritance and complex traits, primary and secondary genetics education must move beyond the mathematics of ‘one gene, one phenotype’ Mendelian inheritance and embrace concepts of complex inheritances.” This science blog was prepared or accomplished by Brooke Wolford in her personal capacity. The opinions expressed in this article are the author’s own and do not reflect the view of the National Institutes of Health, the Department of Health and Human Services, or the United States government.
Definitions and Context for Scientific Jargon
Genetic literacy Sufficient knowledge and appreciation of genetics principles to allow informed decision-making for personal well-being and effective participation in social decisions on genetic issues.[ii] Why this matters? The future of health care will heavily involve genetics and genomics and individuals need genetic literacy in order to be an advocate for their own medical care.
Next Generation Sequencing (NGS) NGS platforms sequence as many as billions of DNA strands in parallel, providing high resolution and inexpensive read outs of genetic data Why this matters? Before NGS it was not possible to interrogate the genome in such a rapid, inexpensive, and accurate way. NGS has opened the door to the future for clinical genomics.
Health disparities A particular type of health difference that is closely linked with social, economic, and/or environmental disadvantage. Health disparities adversely affect groups of people who have systematically experienced greater obstacles to health based on their racial or ethnic group; religion; socioeconomic status; gender; age; mental health; cognitive, sensory, or physical disability; sexual orientation or gender identity; geographic location; or other characteristics historically linked to discrimination or exclusion.[iii] Why this matters? Genetic education is one way to proactively decrease health disparities in the United States.
Genetic determinism The idea that genes and genetics variants are the primary factor determining and shaping human traits. Why this matters? Human health is in fact a complex interaction between your permanent genetic code, the dynamic chemical markings which comprise your epigenome, and the environment and stresses your body experiences which may affect your genome or epigenome. In short, the things that make you who you are, make you healthy, and make you sick are far more complicated than most think.
Epigenome A record of the chemical modifications to the DNA and histone proteins of an organism; these changes can affect the structure of chromatin and cause changes in genome function Why this matters? The epigenome is more difficult to characterize and understand than the individual letters which make up your genome.
Polygenic inheritance When a characteristic is controlled by two or more genes. Why this matters? Traits such as height, skin color, eye color, and weight are the result of polygenic inheritance. Polygenic inheritance makes understanding how your genetic code makes you, you more difficult.
Complex trait A singular trait that is controlled by many genetic factors as well as environment. Why this matters? Complex traits are controlled by many variables and are therefore more difficult to understand or “cure” in the case of human disease. Height is a complex trait that is controlled by a variety of genes and is also affected by an individual’s nutrition (an environmental factor). Type 2 Diabetes is a complex disease, which is likely controlled by several genes as well as environmental factors such as diet and exercise.
Mendelian inheritance When a characteristic is controlled by a single gene (the laws proposed by Gregor Mendel define this pattern of inheritance). Why this matters? Traits with Mendelian inheritance are simpler to understand possibly treat in the case of disease. Cystic Fibrosis is a disease inherited according to Mendelian inheritance—a mutation in one gene causes the disease phenotype.
Phenotype The physical manifestations of the genetic code in the form of traits that can be seen and measured. Why this matters? In cases where we do not understand the genetic factors controlling a trait, we are likely able to see and measure the trait. For example, height is a complex trait but we can measure one’s height—a phenotype.
[i] Katsanis, S. H., & Katsanis, N. (2013). Molecular genetic testing and the future of clinical genomics. Nature Reviews Genetics, 14(6), 415–426. doi:10.1038/nrg3493
[ii] Bowling, B. V., Acra, E. E., Wang, L., Myers, M. F., Dean, G. E., Markle, G. C., … Huether, C. A. (2008). Development and Evaluation of a Genetics Literacy Assessment Instrument for Undergraduates. Genetics, 178(1), 15–22. doi:10.1534/genetics.107.079533
[iii] U.S. Department of Health and Human Services. The Secretary’s Advisory Committee on National Health Promotion and Disease Prevention Objectives for 2020. Phase I report: Recommendations for the framework and format of Healthy People 2020. Section IV. Advisory Committee findings and recommendations. Available at: http://www.healthypeople.gov/hp2020/advisory/PhaseI/sec4.htm#_Toc211942917.