Advocacy Fact Sheets

Research in human genetics and genomics drives discovery and better health. Explore our fact sheets below to learn more about these advances and their applications.

Human Genetic and Genomic Research

ThaCase of Genetics Covernks to decades of robust federal funding for National Institutes of Health research, new genetic and genomic knowledge is transforming medicine and saving lives.
Advances include more precise diagnoses, drugs, and therapies; new understanding and earlier screening of rare and common disease; and a better understanding of the rich evolutionary heritage of all peoples. New research frontiers such as gene therapy and gene editing present opportunities to treat—and even reverse—disease more effectively.

 

References

Bamshad, M., Shendure, J., Valle, D., Lupski, J., Gibbs, R., Boerwinkle, E., . . . Center for Mendelian Genomics. (2012). The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics A, 1523-1525.

Battelle Technology Partnership Practice. (2013, June). The Impact of Genomics on the U.S. Economy. Retrieved from United for Medical Research: http://www.unitedformedicalresearch.com/wp-content/uploads/2013/06/The-Impact-of-Genomics-on-the-US-Economy.pdf

Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC). (2018). Retrieved from NIH: https://report.nih.gov/categorical_spending.aspx

Integrative Human Microbiome Project (iHMP) Research Network Consortium. (2014). The Integrative Human Microbiome Project: dynamic analysis of microbiome-host omics profiles during periods of human health and disease. Cell Host and Microbe, 276-289.

Khera, A., Chaffin, M., Aragam, K., Haas, M., Roselli, C., Natarajan, P., . . . Kathiresan, S. (2018). Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nature Genetics, 1219-1224.

NCI Staff. (2018, May 22). FDA Approves Second CAR T-Cell Therapy for Lymphoma. Retrieved from National Cancer Institute: https://www.cancer.gov/news-events/cancer-currents-blog/2018/tisagenlecleucel-fda-lymphoma

New gene therapy strategy for sickle cell disease shows early promise in humans. (2018, December 1). Retrieved from Dana-Farber Cancer Institute: https://www.dana-farber.org/newsroom/news-releases/2018/new-genetherapy-strategy-for-sickle-cell-disease-shows-early-promise-in-humans/

New Guinness World Records Title Set for Fastest Genetic Diagnosis. (2019, February 12). Retrieved from Rady Children’s Hospital San Diego: https://www.rchsd.org/about-us/newsroom/press-releases/new-guinness-world-records-title-set-for-fastest-genetic-diagnosis/

NIH Research Grants. (2018). Retrieved from NIH: https://www.nih.gov/news-events/nih-research-grants-digital-press-kit

Posey, J., O’Donnell-Luria, A., Chong, J., Harel, T., Jhangiani, S., …Centers for Mendelian Genomics. (2019). Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine 21 (4):798-812.

Simonti, C., Vernot, B., Bastarache, L., Bottinger, E., Carrell, D., Chisholm, R., . . . Capra, J. (2016). The phenotypic legacy of admixture between modern humans and Neandertals. Science, 737-741.

Thanks to a UNC research project, she can walk again. (2017, August). Retrieved from UNC Health Care: http://news.unchealthcare.org/news/2017/august/thanks-to-a-unc-research-project-she-can-walk-again

Rare Diseases

It is estimRare Disease Fact Sheetated that about 25-30 million Americans suffer from a rare disease. In the United States, a rare disease is defined as affecting fewer than 200,0001. While each rare or ultra-rare disease affects only a small number of individuals, the impact on patients, families, and communities is enormous.Rare diseases collectively affect a significant portion of the population. Most conditions are chronic, debilitating, and even life-threatening. Advances in genetics and genomics research have and will continue to benefit Americans living with rare diseases.

 

References

1 https://www.fda.gov/media/99546/download

2 Austin, C.P., Cutillo, C.M., Lau, L.P.L., Jonker, A.H., Rath, A., Julkowska, D., Thomson, D., Terry, S.F., de Montleau, B., Ardigò, D., et al. (2018). Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective. Clin. Transl. Sci.

3 Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., et al. (2018). Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective. Clin. Transl. Sci.

4 Splinter, K., Adams, D.R., Bacino, C.A., Bellen, H.J., Bernstein, J.A., Cheatle-Jarvela, A.M., Eng, C.M., Esteves, C., Gahl, W.A., Hamid, R., et al. (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N. Engl. J. Med.

5 https://ghr.nlm.nih.gov/condition/cln7-disease#statistics

6 https://www.sciencemag.org/news/2018/10/tailormade-drug-developed-record-time-may-save-girl-fatal-brain-disease

7 https://www.stopbatten.org/

8 https://nri.texaschildrens.org/news/leo%E2%80%99s-story-our-superhero

Figure 2: Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., den Dunnen, J.T., et al. (2017). International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet.

Gene Editing with CRISPR

ICrispr9 Factsheetn the past decade, scientists have found a way to make specific, targeted changes to DNA much more quickly and efficiently than ever before. This is made possible by a revolutionary gene editing tool called CRISPR, discovered through federally funded basic research investigating the immune systems of bacteria. Scientists are now harnessing CRISPR as a research tool to study the human genome. Clinical trials are also underway, examining its therapeutic utility for a variety of genetic defects and disorders, as well as for cancer treatment and rapid diagnostics for infectious diseases.

 

References

  1. Lander, E. S. (2016). The Heroes of CRISPR. Cell, 164(1-2), 18-28. doi:10.1016/j.cell.2015.12.041
  2. https://www.npr.org/sections/health-shots/2020/03/04/811461486/in-a-1st-scientists-use-revolutionary-gene-editing-tool-to-edit-inside-a-patient
  3. https://www.nature.com/articles/d41586-020-00655-8
  4. E A Stadtmauer et al, Science, 2020, DOI: 10.1126/science.aba7365
  5. https://www.gao.gov/products/GAO-20-478SP
  6. https://www.fda.gov/news-events/press-announcements/coronavirus-covid-19-update-daily-roundup-may-7-2020
  7. https://www.genome.gov/about-genomics/policy-issues/Genome-Editing/How-genome-editing-is-used
Noninvasive Prenatal Genetic Screening
Cancer Genetics and Genomics

Cancer, a disease caused by mutations in the human genome, is the second leading cause of death in the United States. Basic genetics and genomics research funded by the National Institutes of Health (NIH) has led to a greater understanding of the causes of numerous types of cancer, which in turn is leading to advances in clinical care. The development of early prevention and detection tools, as well as increasingly effective targeted therapies, has improved the prognosis for patients.

 

References

  1. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  2. https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2019/cancer-facts-and-figures-2019.pdf
  3. https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga
  4. https://www.cancertreatmentreviews.com/article/S0305-7372(14)00043-7/fulltext
  5. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  6. https://www.cancer.gov/about-cancer/causes-prevention/genetics
  7. https://www.annalsofoncology.org/article/S0923-7534(20)36058-0/fulltext
  8. https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
  9. https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet
  10. https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet
  11. https://www.cancer.gov/news-events/cancer-currents-blog/2018/tisagenlecleucel-fda-lymphoma
  12. https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
  13. https://www.nejm.org/doi/full/10.1056/NEJMoa1903387
  14. https://www.cancer.gov/research/areas/genomics
  15. https://www.cancer.gov/about-nci/organization/ccg/cancer-genomics-overview
  16. https://www.cancer.gov/research/areas/genomics   
Sequencing

DNAPolicy-factsheet-sequencing sequencing is a standard technique used in genetic research and medicine to read a person’s DNA code. Through DNA sequencing, researchers are investigating how the human genome functions and exploring the genetic causes of disease, and this knowledge is being translated into advances in clinical care. Sustained investments in the National Institutes of Health (NIH) have funded remarkable advances in DNA sequencing technologies, enabling new research and clinical applications.

 

References

  1. Hayden, E.C. (2014). Technology: The $1000 Genome. Nature
  2. https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data
  3. Manolio, T., Bult, C. , Chisholm R., et al. (2019). Genomic Medicine Year in Review: 2019. The American Journal of Human Genetics 105:6, P1072-1075.
  4. http://news.unchealthcare.org/news/2017/august/thanks-to-a-unc-research-project-she-can-walk-again
  5. https://allofus.nih.gov/about/all-us-research-program-overview
  6. Gavan, S., Thompson, A., Payne, K. (2018). The economic case for precision medicine. Expert review of precision medicine and drug development vol. 3,1 1-9. Ginsburg, G., Phillips, K. (2018). Precision Medicine: From Science To Value. Health Affairs (Project Hope), 37(5), 694–701.
  7. https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost
  8. https://www.labiotech.eu/features/genome-sequencing-review-projects/
  9. https://www.cdc.gov/nchs/fastats/infant-health.htm
  10. https://www.rchsd.org/about-us/newsroom/press-releases/new-guinness-world-records-title-set-for-fastest-genetic-diagnosis 
COVID-19 and Genetics

The international biomedical research community is working at an unprecedented pace, with unparalleled progress, to understand and defeat the SARS-COV-2 pathogen.  In early 2020, researchers pivoted quickly to COVID-19 and today are generating and sharing data, treatment options, and prevention strategies with record speed and transparency. This rapid response and our ability to understand and respond to this specific virus are possible thanks to decades of basic and translational research, as well as sustained federal investment in technology and a research community that spans disciplines and sectors.

The human genetics community is contributing to solutions in three foundational ways and, even as headlines report changes in the virus, researchers are tracking those changes relentlessly and working to get a step ahead and stop its tragic impact.

 

References

  1. Hayden, E.C. (2014). Technology: The $1000 Genome. Nature
  2. https://directorsblog.nih.gov/2020/07/16/researchers-publish-encouraging-early-data-on-covid-19-vaccine/
  3. https://www.goldengooseaward.org/01awardees/immunome
  4. Zost, S.J., Gilchuk, P., Chen, R.E., Case, J.B., Reidy, J.X., Trivette, A., et al. (2020). Rapid Isolation and profiling of a diverse panel of human monoclonal antibodies targeting the SARS-Cov-2 spike protein. Nature Medicine. 26(9), 1422-1427.
  5. https://covid19-testing.broadinstitute.org/
  6. https://www.bcm.edu/news/baylor-genomics-teams-partner-to-provide-covid-19-testing-for-houston-area
  7. https://www.color.com/covid
  8. https://www.cdc.gov/coronavirus/2019-ncov/covid-data/investigations-discovery/hospitalization-death-by-race-ethnicity.html
  9. https://www.covid19hg.org/partners/
  10. https://www.covidhge.com/
  11. Wadman, M. (2020). Flawed interferon response spurs severe illness. Science. 369(6511), 1550-1551. 
Economic Impact of Human Genetics & Genomics

This fact sheet highlights major findings from a new ASHG commissioned report examining how human genetics and genomics is growing the U.S. economy and becoming increasingly integrated in healthcare and society.

 

 

 

 

 

 

Diversity in Genetics and Genomics Studies

It is imperative for participation in genetics and genomics research to reflect humanity’s diversity so that all people can enjoy its benefits. This will take a concerted effort by the research community and research funders and must include greater engagement with individuals and communities underrepresented in research.

 

References

  1. Sirugo G., Williams, S.M., Tishkoff S.A. The Missing Diversity in Genetic Studies. Cell (2019).
  2. Collins, F., Doudna, J.A., Lander, E., and Rotimi, C.N. Human Molecular Genetics and Genomics — Important Advances and Exciting Possibilities. N.Engl.J.Med (2021).
  3. Ibid.
  4. https://www.nhlbi.nih.gov/news/2018/genetic-study-reveals-why-asthma-inhalers-fail-minority-children
  5. Hindorff, L.A., Bonham, V.A., Brody, L.C., et al. Prioritizing diversity in human genomics research. Nat Rev Genet (2018).
  6. https://www.cdc.gov/coronavirus/2019-ncov/community/health-equity/racial-ethnic-disparities/index.html
  7. https://www.nih.gov/ending-structural-racism/unite
  8. https://allofus.nih.gov/about/core-values
  9. https://h3africa.org/index.php/about/
  10. https://www.southerncommunitystudy.org/about-the-sccs.html
  11. https://www.jacksonheartstudy.org/
  12. https://www.nhlbi.nih.gov/science/hispanic-community-health-studystudy-latinos-hchssol
Neurogenetics

Federally funded basic research is driving progress toward understanding the genes involved in a large number of neurological and psychiatric disorders. About 40% of more than 5,000 genetic disorders with a known molecular basis are associated with the nervous system. Improvements in sequencing technology and other genetic tools have enabled the identification of genes involved in many brain disorders and provided new insights into their role in disease. These advances, along with recent breakthroughs in gene therapy, have already translated research discoveries into treatments for previously incurable diseases.

 

References

  1. Rexach, J., Lee, H., Martinez-Agosto, J. A., Németh, A. H., & Fogel, B. L. (2019). Clinical application of next-generation sequencing to the practice of neurology. The Lancet. Neurology18(5), 492–503. doi: 10.1016/S1474-4422(19)30033-X.
  2. Vgontzas, A. and Renthal, W. (2019). Introduction to neurogenetics. American Journal of Medicine. 132:142-152. doi: 10.1016/j.amjmed.2018.07.041.
  3. https://braininitiative.nih.gov/strategic-planning/brain-priority-areas
  4. Kunkle BW, et al. (2019). Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2.
  5. International Parkinson Disease Genomics Consortium (IPDGC). Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps. J Parkinsons Dis. 2020;10(1):19-30. doi: 10.3233/JPD-191854.
  6. https://www.nih.gov/news-events/nih-research-matters/mental-disorders-may-share-molecular-origins
  7. Zoghbi, H. Y., & Warren, S. T. (2010). Neurogenetics: advancing the “next-generation” of brain research. Neuron68(2), 165–173. doi: 10.1016/j.neuron.2010.10.015.
  8. Rexach, J., Lee, H., Martinez-Agosto, J. A., Németh, A. H., & Fogel, B. L. (2019). Clinical application of next-generation sequencing to the practice of neurology. The Lancet. Neurology18(5), 492–503. doi: 10.1016/S1474-4422(19)30033-X.
  9. https://www.ucsf.edu/news/2020/10/418921/genetic-testing-leads-awakening-developmentally-delayed-nearly-catatonic-teen
  10. Jayadev, S., Smith, C. O., & Bird, T. D. (2011). Neurogenetics: Five new things. Neurology. Clinical practice1(1), 41–48. doi: 10.1212/CPJ.0b013e31823c0f5f
  11. https://www.fda.gov/news-events/press-announcements/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease
  12. Zoghbi, H. Y., & Warren, S. T. (2010). Neurogenetics: advancing the “next-generation” of brain research. Neuron68(2), 165–173. doi: 10.1016/j.neuron.2010.10.015  

 

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