Precision public health in the era of genomics and big data

Chowkwanyun, M., Bayer, R. & Galea, S. ‘Precision’ public health — between novelty and hype. N. Engl. J. Med. 379, 1398–1400 (2018).Article 
PubMed 

Google Scholar 
Seeking precision in public health. Nat. Med. 25, 1177 (2019).Olstad, D. L. & McIntyre, L. Reconceptualising precision public health. BMJ Open 9, e030279 (2019).Article 
PubMed 
PubMed Central 

Google Scholar 
Kee, F. & Taylor-Robinson, D. Scientific challenges for precision public health. J. Epidemiol. Community Health 74, 311–314 (2020).Article 
PubMed 

Google Scholar 
Arnold, C. Is precision public health the future — or a contradiction? Nature 601, 18–20 (2022).Article 
CAS 
PubMed 

Google Scholar 
Khoury, M. J., Armstrong, G. L., Bunnell, R. E., Cyril, J. & Iademarco, M. F. The intersection of genomics and big data with public health: opportunities for precision public health. PLoS Med. 17, e1003373 (2020).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Khoury, M. J., Iademarco, M. F. & Riley, W. T. Precision public health for the era of precision medicine. Am. J. Prev. Med. 50, 398–401 (2016).Article 
PubMed 

Google Scholar 
Khoury, M. J. et al. From public health genomics to precision public health: a 20-year journey. Genet. Med. 20, 574–582 (2018).Article 
PubMed 

Google Scholar 
Allen, C. G. et al. Perspectives from early career investigators who are ‘staying in the game’ of precision public health research. Am. J. Public Health 109, 1186–1187 (2019).Article 
PubMed 
PubMed Central 

Google Scholar 
Centers for Disease Control and Prevention (CDC). Ten great public health achievements—United States, 2001–2010. MMWR Morb. Mortal. Wkly. Rep. 60, 619–623 (2011).
Google Scholar 
Levy, J. I., Andersen, K. G., Knight, R. & Karthikeyan, S. Wastewater surveillance for public health. Science 379, 26–27 (2023).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Collins, F. S. Shattuck lecture—medical and societal consequences of the Human Genome Project. N. Engl. J. Med. 341, 28–37 (1999).Article 
CAS 
PubMed 

Google Scholar 
Burke, W., Khoury, M. J., Stewart, A., Zimmern, R. L. & Bellagio Group. The path from genome-based research to population health: development of an international public health genomics network. Genet. Med. 8, 451–458 (2006).Article 
PubMed 

Google Scholar 
Khoury, M. J. Public health genomics at the Centers for Disease Control and Prevention: happy twenty-fifth anniversary! CDC Genomics and Precision Health Blog https://blogs.cdc.gov/genomics/2022/12/12/25th-anniversary/ (2022).Lacaze, P., Manchanda, R. & Green, R. C. Prioritizing the detection of rare pathogenic variants in population screening. Nat. Rev. Genet. 24, 205–206 (2023).Article 
CAS 
PubMed 

Google Scholar 
Khoury, M. J. & Dotson, W. D. From genes to public health: are we ready for DNA-based population screening? Genet. Med. 23, 996–998 (2021).Article 
PubMed 
PubMed Central 

Google Scholar 
Foss, K. S. et al. The rise of population genomic screening: characteristics of current programs and the need for evidence regarding optimal implementation. J. Pers. Med. 12, 692 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Murray, M. F. et al. A proposed approach for implementing genomics-based screening programs for healthy adults. NAM Perspect. https://doi.org/10.31478/201812a (2018).Article 

Google Scholar 
Grzymski, J. et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat. Med. 26, 1235–1239 (2020).Article 
CAS 
PubMed 

Google Scholar 
Xiang, R. et al. Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. Genome Med. 16, 33 (2024).Article 
PubMed 
PubMed Central 

Google Scholar 
Wand, H. et al. Improving reporting standards for polygenic scores in risk prediction studies. Nature 591, 211–219 (2021).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Mavaddat, N. et al. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am. J. Hum. Genet. 104, 21–34 (2019).Article 
CAS 
PubMed 

Google Scholar 
Pashayan, N., Morris, S., Gilbert, F. J. & Pharoah, P. D. P. Cost-effectiveness and benefit-to-harm ratio of risk-stratified screening for breast cancer: a life-table model. JAMA Oncol. 4, 1504–1510 (2018).Article 
PubMed 
PubMed Central 

Google Scholar 
Eklund, M. et al. The WISDOM personalized breast cancer screening trial: simulation study to assess potential bias and analytic approaches. JNCI Cancer Spectr. 2, pky067 (2018).Article 
PubMed 

Google Scholar 
Lambert, S. A. et al. The polygenic score catalog as an open database for reproducibility and systematic evaluation. Nat. Genet. 53, 420–425 (2021).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Carroll, N. M. et al. Demographic differences in the utilization of clinical and direct-to-consumer genetic testing. J. Genet. Couns. 29, 634–643 (2020).Article 
PubMed 

Google Scholar 
Martins, M. F., Murry, L. T., Telford, L. & Moriarty, F. Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns. Eur. J. Hum. Genet. 30, 1331–1343 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
National Academies of Sciences, Engineering and Medicine. Genomics-Enabled Learning Health Care Systems: Gathering and Using Genomic Information to Improve Patient Care and Research: Workshop Summary. (National Academies Press, 2015).
Google Scholar 
Chambers, D. A., Feero, W. G. & Khoury, M. J. Convergence of implementation science, precision medicine, and the learning health care system: a new model for biomedical research. JAMA 315, 1941–1942 (2016).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Caggiano, C. et al. Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region. Nat. Med. 29, 1845–1856 (2023).Article 
CAS 
PubMed 

Google Scholar 
Belbin, G. M. et al. Toward a fine-scale population health monitoring system. Cell 184, 2068–2083(2021).Article 
CAS 
PubMed 

Google Scholar 
National Human Genome Research Institute. RFA-HG-23-041: Network of Genomics-Enabled Learning Health Systems (gLHS) Clinical Sites (U01 Clinical Trial Required). https://grants.nih.gov/grants/guide/rfa-files/RFA-HG-23-041.html (US Department of Health and Human Services, 2023).Roberts, M. C., Turbitt, E. & Klein, W. M. P. Psychosocial, attitudinal, and demographic correlates of cancer-related germline genetic testing in the 2017 Health Information National Trends Survey. J. Community Genet. 10, 453–459 (2019).Article 
PubMed 
PubMed Central 

Google Scholar 
Giri, V. N., Shimada, A. & Leader, A. E. Predictors of population awareness of cancer genetic tests: implications for enhancing equity in engaging in cancer prevention and precision medicine. JCO Precis. Oncol. 5, 1699–1708 (2021).White, S., Jacobs, C. & Phillips, J. Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genet. Med. 22, 1149–1155 (2020).Article 
PubMed 

Google Scholar 
Khoury, M. J. et al. Health equity in the implementation of genomics and precision medicine: a public health imperative. Genet. Med. 24, 1630–1639 (2022).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Bartholomew Eldredge, L. K. Planning Health Promotion Programs: An Intervention Mapping Approach. (Jossey-Bass & Pfeiffer Imprints, Wiley, 2016).
Google Scholar 
Orlando, L. A. et al. Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group. Genet. Med. 20, 655–663 (2018).Article 
PubMed 

Google Scholar 
Alarcón Garavito, G. A. et al. The implementation of large-scale genomic screening or diagnostic programmes: a rapid evidence review. Eur. J. Hum. Genet. 31, 282–295 (2023).Article 
PubMed 

Google Scholar 
Saylor, K. W. et al. Genetic testing and other healthcare use by black and white individuals in a genomic sequencing study. Public Health Genomics 26, 90–102 (2023).Article 
PubMed 

Google Scholar 
Swami, N., Yamoah, K., Mahal, B. A. & Dee, E. C. The right to be screened: identifying and addressing inequities in genetic screening. Lancet Reg. Health Am. 11, 100251 (2022).PubMed 
PubMed Central 

Google Scholar 
Landry, L. G., Ali, N., Williams, D. R., Rehm, H. L. & Bonham, V. L. Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice. Health Aff. 37, 780–785 (2018).Article 

Google Scholar 
Fatumo, S. et al. A roadmap to increase diversity in genomic studies. Nat. Med. 28, 243–250 (2022).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584–591 (2019).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Atkinson, E. G. et al. Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power. Nat. Genet. 53, 195–204 (2021).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Fatumo, S. et al. Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions. Genome Med. 15, 87 (2023).Article 
PubMed 
PubMed Central 

Google Scholar 
Allen, C. G. et al. Extending an antiracism lens to the implementation of precision public health interventions. Am. J. Public Health (in the press).Kerkhoff, A. D., Farrand, E., Marquez, C., Cattamanchi, A. & Handley, M. A. Addressing health disparities through implementation science—a need to integrate an equity lens from the outset. Implement. Sci. 17, 13 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Woodward, E. N. et al. A more practical guide to incorporating health equity domains in implementation determinant frameworks. Implement. Sci. Commun. 2, 61 (2021).Article 
PubMed 
PubMed Central 

Google Scholar 
Eslava-Schmalbach, J. et al. Conceptual framework of equity-focused implementation research for health programs (EquIR). Int. J. Equity Health 18, 80 (2019).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Baumann, A. A. & Cabassa, L. J. Reframing implementation science to address inequities in healthcare delivery. BMC Health Serv. Res. 20, 190 (2020).Article 
PubMed 
PubMed Central 

Google Scholar 
Shelton, R. C., Chambers, D. A. & Glasgow, R. E. An extension of RE-AIM to enhance sustainability: addressing dynamic context and promoting health equity over time. Front. Public Health 8, 134 (2020).Article 
PubMed 
PubMed Central 

Google Scholar 
Swaminathan, B., Barrett, T. J., Hunter, S. B., Tauxe, R. V. & CDC PulseNet Task Force. PulseNet: the molecular subtyping network for foodborne bacterial disease surveillance, United States. Emerg. Infect. Dis. 7, 382–389 (2001).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Flahault, A. et al. FluNet as a tool for global monitoring of influenza on the Web. JAMA 280, 1330–1332 (1998).Article 
CAS 
PubMed 

Google Scholar 
Allard, M. W. et al. Practical value of food pathogen traceability through building a whole-genome sequencing network and database. J. Clin. Microbiol. 54, 1975–1983 (2016).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Chattaway, M. A. et al. The transformation of reference microbiology methods and surveillance for salmonella with the use of whole genome sequencing in England and Wales. Front. Public Health 7, 317 (2019).Article 
PubMed 
PubMed Central 

Google Scholar 
Allard, M. W. et al. Whole genome sequencing uses for foodborne contamination and compliance: discovery of an emerging contamination event in an ice cream facility using whole genome sequencing. Infect. Genet. Evol. 73, 214–220 (2019).Article 
CAS 
PubMed 

Google Scholar 
Gardy, J. L. & Loman, N. J. Towards a genomics-informed, real-time, global pathogen surveillance system. Nat. Rev. Genet. 19, 9–20 (2018).Article 
CAS 
PubMed 

Google Scholar 
Rasmussen, S. A., Khoury, M. J. & Del Rio, C. Precision public health as a key tool in the COVID-19 response. JAMA 324, 933–934 (2020).Article 
CAS 
PubMed 

Google Scholar 
McClary-Gutierrez, J. S. et al. SARS-CoV-2 wastewater surveillance for public health action. Emerg. Infect. Dis. 27, 1–8 (2021).Article 
PubMed 

Google Scholar 
Carabelli, A. M. et al. SARS-CoV-2 variant biology: immune escape, transmission and fitness. Nat. Rev. Microbiol. 21, 162–177 (2023).CAS 
PubMed 
PubMed Central 

Google Scholar 
Rambaut, A. et al. A dynamic nomenclature proposal for SARS-CoV-2 lineages to assist genomic epidemiology. Nat. Microbiol. 5, 1403–1407 (2020).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Sonabend, R. et al. Non-pharmaceutical interventions, vaccination, and the SARS-CoV-2 delta variant in England: a mathematical modelling study. Lancet Lond. Engl. 398, 1825–1835 (2021).Article 
CAS 

Google Scholar 
Atherstone, C. J. et al. COVID-19 epidemiology during Delta variant dominance period in 45 high-income countries, 2020–2021. Emerg. Infect. Dis. 29, 1757–1764 (2023).Article 
PubMed 
PubMed Central 

Google Scholar 
Johnson, B. PM Statement at Coronavirus Press Conference: 14 June 2021. https://www.gov.uk/government/speeches/pm-statement-at-coronavirus-press-conference-14-june-2021 2021).Infectious Diseases Society of America. IDSA supports new CDC guidance on mask wearing as delta variant spreads. https://www.idsociety.org/news–publications-new/articles/2021/idsa-supports-new-cdc-guidance-on-mask-wearing-as-delta-variant-spreads/ (2021).Mooi-Reci, I., Wooden, M. & Zilio, F. Baby bump or baby slump? COVID-19, lockdowns, and their effects on births in Australia. SSM Popul. Health 25, 101604 (2024).Article 
PubMed 
PubMed Central 

Google Scholar 
COVID-19 Host Genetics Initiativeet al. A first update on mapping the human genetic architecture of COVID-19. Nature 608, E1–E10 (2022).Article 

Google Scholar 
The Severe COVID-19 GWAS Group. Genomewide association study of severe COVID-19 with respiratory failure. N. Engl. J. Med. 383, 1522–1534 (2020).Article 

Google Scholar 
Africa Centres for Disease Control and Prevention. A six-year journey: advancing pathogen genomics in Africa. https://africacdc.org/news-item/a-six-year-journey-advancing-pathogen-genomics-in-africa/ (2023).Baker, K. S. et al. Genomics for public health and international surveillance of antimicrobial resistance. Lancet Microbe 4, e1047–e1055 (2023).Article 
PubMed 

Google Scholar 
World Health Organization. WHO Guiding Principles for Pathogen Genome Data Sharing (WHO, 2022).World Health Organization. WHO releases step by step guide to help countries develop their national genomic surveillance strategy for pathogens with pandemic and epidemic potential. https://www.who.int/news/item/22-09-2023-WHO-releases-step-by-step-guide-to-help-countries-develop-their-national-genomic-surveillance-strategy-for-pathogens-with-pandemic-and-epidemic-potential (2023).Griffiths, E. J. et al. Future-proofing and maximizing the utility of metadata: the PHA4GE SARS-CoV-2 contextual data specification package. GigaScience 11, giac003 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Bedeker, A. et al. A framework for the promotion of ethical benefit sharing in health research. BMJ Glob. Health 7, e008096 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Baccarelli, A. A. & Ordovás, J. Epigenetics of early cardiometabolic disease: mechanisms and precision medicine. Circ. Res. 132, 1648–1662 (2023).Article 
CAS 
PubMed 

Google Scholar 
Baccarelli, A., Dolinoy, D. C. & Walker, C. L. A precision environmental health approach to prevention of human disease. Nat. Commun. 14, 2449 (2023).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Wu, H., Eckhardt, C. M. & Baccarelli, A. A. Molecular mechanisms of environmental exposures and human disease. Nat. Rev. Genet. 24, 332–344 (2023).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Bezold, C. P. et al. The relationship between surrounding greenness in childhood and adolescence and depressive symptoms in adolescence and early adulthood. Ann. Epidemiol. 28, 213–219 (2018).Article 
PubMed 
PubMed Central 

Google Scholar 
James, P., Hart, J. E., Banay, R. F., Laden, F. & Signorello, L. B. Built environment and depression in low-income African Americans and whites. Am. J. Prev. Med. 52, 74–84 (2017).Article 
PubMed 

Google Scholar 
Belsky, D. W. & Baccarelli, A. A. To promote healthy aging, focus on the environment. Nat. Aging 3, 1334–1344 (2023).Article 
PubMed 

Google Scholar 
Hekler, E., Tiro, J. A., Hunter, C. M. & Nebeker, C. Precision health: the role of the social and behavioral sciences in advancing the vision. Ann. Behav. Med. 54, 805–826 (2020).Article 
PubMed 
PubMed Central 

Google Scholar 
Pfadenhauer, L. M. et al. Making sense of complexity in context and implementation: the Context and Implementation of Complex Interventions (CICI) framework. Implement. Sci. 12, 21 (2017).Article 
PubMed 
PubMed Central 

Google Scholar 
Clyne, M., Roberts, M. C., & Khoury, M. J. Tracking the contributions of implementation science to the population health impact of genomics and precision health: a new knowledge base. CDC Genomics and Precision Health Blog https://blogs.cdc.gov/genomics/2023/06/16/tracking-the-contributions/ (2023).Fisher, S. & Rosella, L. C. Priorities for successful use of artificial intelligence by public health organizations: a literature review. BMC Public Health 22, 2146 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Șerban, O., Thapen, N., Maginnis, B., Hankin, C. & Foot, V. Real-time processing of social media with SENTINEL: a syndromic surveillance system incorporating deep learning for health classification. Inf. Process. Manag. 56, 1166–1184 (2019).Article 

Google Scholar 
Ward, P. J. et al. Enhancing timeliness of drug overdose mortality surveillance: a machine learning approach. PLoS ONE 14, e0223318 (2019).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Kaphingst, K. A. et al. Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial. BMC Health Serv. Res. 21, 542 (2021).Article 
PubMed 
PubMed Central 

Google Scholar 
Schlechter, C. R. et al. Rapid-cycle designs to adapt interventions for COVID-19 in safety-net healthcare systems. Transl. Behav. Med. 13, 389–399 (2023).Article 
PubMed 
PubMed Central 

Google Scholar 
Andaur Navarro, C. L. et al. Risk of bias in studies on prediction models developed using supervised machine learning techniques: systematic review. BMJ 375, n2281 (2021).Article 
PubMed 
PubMed Central 

Google Scholar 
Obermeyer, Z., Powers, B., Vogeli, C. & Mullainathan, S. Dissecting racial bias in an algorithm used to manage the health of populations. Science 366, 447–453 (2019).Article 
CAS 
PubMed 

Google Scholar 
Vyas, D. A., Eisenstein, L. G. & Jones, D. S. Hidden in plain sight—reconsidering the use of race correction in clinical algorithms. N. Engl. J. Med. 383, 874–882 (2020).Article 
PubMed 

Google Scholar 
Ibrahim, H., Liu, X., Zariffa, N., Morris, A. D. & Denniston, A. K. Health data poverty: an assailable barrier to equitable digital health care. Lancet Digit. Health 3, e260–e265 (2021).Article 
CAS 
PubMed 

Google Scholar 
DeSalvo, K. B. Public Health 3.0: a call to action for public health to meet the challenges of the 21st century. Prev. Chronic Dis. 14, E78 (2017).Article 
PubMed 
PubMed Central 

Google Scholar 
Ndumbe-Eyoh, S., Muzumdar, P., Betker, C. & Oickle, D. Back to better’: amplifying health equity, and determinants of health perspectives during the COVID-19 pandemic. Glob. Health Promot. 28, 7–16 (2021).Article 
PubMed 
PubMed Central 

Google Scholar 
Centers for Disease Control and Prevention. 10 essential public health services. Public Health Professionals Gateway https://www.cdc.gov/public-health-gateway/php/about/index.html (2024).Au, R., Ritchie, M., Hardy, S., Ang, T. F. A. & Lin, H. Aging well: using precision to drive down costs and increase health quality. Adv. Geriatr. Med. Res. 1, e190003 (2019).PubMed 
PubMed Central 

Google Scholar 
Roberts, M. C. & Allen, C. G. Next-generation public health genomics: a call to assess the equitable implementation, population health impact, and sustainability of precision public health applications. Public Health Genomics 27, 30–34 (2024).Article 
PubMed 

Google Scholar 
Roberts, M. C., Kennedy, A. E., Chambers, D. A. & Khoury, M. J. The current state of implementation science in genomic medicine: opportunities for improvement. Genet. Med. 19, 858–863 (2017).Article 
PubMed 
PubMed Central 

Google Scholar 
Fütterer, T. et al. ChatGPT in education: global reactions to AI innovations. Sci. Rep. 13, 15310 (2023).Article 
PubMed 
PubMed Central 

Google Scholar 
Clayton, E. W., Halverson, C. M., Sathe, N. A. & Malin, B. A. A systematic literature review of individuals’ perspectives on privacy and genetic information in the United States. PLoS ONE 13, e0204417 (2018).Article 
PubMed 
PubMed Central 

Google Scholar 
Srinivasan, S. et al. Stakeholder perspectives on overcoming barriers to cascade testing in lynch syndrome: a qualitative study. Cancer Prev. Res. Phila. Pa 13, 1037–1046 (2020).Article 

Google Scholar 
Turley, P. et al. Problems with using polygenic scores to select embryos. N. Engl. J. Med. 385, 78–86 (2021).Article 
PubMed 
PubMed Central 

Google Scholar 
Meyer, M. N., Tan, T., Benjamin, D. J., Laibson, D. & Turley, P. Public views on polygenic screening of embryos. Science 379, 541–543 (2023).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Allen, C. G. et al. Precision public health initiatives in cancer: proceedings from the transdisciplinary conference for future leaders in precision public health. BMC Proc. 16, 4 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Shelton, R. C., Adsul, P., Oh, A., Moise, N. & Griffith, D. M. Application of an antiracism lens in the field of implementation science (IS): recommendations for reframing implementation research with a focus on justice and racial equity. Implement. Res. Pract. 2, 26334895211049480 (2021).
Google Scholar 
Kurian, A. W. et al. Time trends in receipt of germline genetic testing and results for women diagnosed with breast cancer or ovarian cancer, 2012–2019. J. Clin. Oncol. 39, 1631–1640 (2021).Article 
CAS 
PubMed 
PubMed Central 

Google Scholar 
Khoury, M. J. Integrating genomics into population-based cancer surveillance in the era of precision medicine. CDC Genomics and Precision Health Blog https://blogs.cdc.gov/genomics/2017/09/19/integrating-genomics-2 (2017).Green, R. F. et al. Implementing cancer genomics in state health agencies: mapping activities to an implementation science outcome framework. Public Health Genomics 23, 218–229 (2020).Article 
PubMed 

Google Scholar 
Knowles, J. W. et al. Reducing the burden of disease and death from familial hypercholesterolemia: a call to action. Am. Heart J. 168, 807–811 (2014).Article 
PubMed 
PubMed Central 

Google Scholar 
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. The EGAPP initiative: lessons learned. Genet. Med. 16, 217–224 (2014).Article 

Google Scholar 
FORCE – Facing Hereditary Cancer Empowered. Genetic Counseling & Testing Under the Affordable Care Act (ACA) https://www.facingourrisk.org/privacy-policy-legal/laws-protections/ACA/screening-preventive-services/genetic-counseling-testing (accessed 11 June 2024).Romagnoli, K. M. et al. Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems. Public Health Genomics 26, 45–57 (2023).Article 
PubMed 

Google Scholar 
Centers for Disease Control and Prevention. Genomic Workforce Competencies 2001; https://archive.cdc.gov/www_cdc_gov/genomics/translation/competencies/index.htm (2010).Allen, C. G. et al. A pragmatic implementation research study for In Our DNA SC: a protocol to identify multi-level factors that support the implementation of a population-wide genomic screening initiative in diverse populations. Implement Sci. Commun. 3, 48 (2022).Article 
PubMed 
PubMed Central 

Google Scholar 
Khoury, M. J., Bowen, S., Dotson, W. D., & Kolor, K. Genomics and precision medicine 2021: progress in implementation, a focus on health equity, and a new public health initiative. CDC Genomics and Precision Health Blog https://blogs.cdc.gov/genomics/2021/12/17/genomics-2021/ (2021).