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 yjq (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. yvg (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). vyn (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. imr 2021).

  • Infectious Diseases Society of America. IDSA supports new CDC guidance on mask wearing as delta variant spreads. dub (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. jae (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. oeb (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 ajc (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 oph (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 oyc (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) pxc (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; obl (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 zae (2021).