Policies and practices of data-intensive primary care in the precision-medicine era

Vasiliki Rahimzadeh, Gillian Bartlett

Abstract


Since our first writing on the topic in 2014, it comes as no surprise that the wheels of technological progress in next generation sequencing and precision medicine have not ceased turning. The clinical frontier is on the cusp of yet another technological revolution, one that is chiefly driven by new forms and functions of data, capable of transforming the clinic into a living, learning ecosystem of discovery and care. Primary care is, as it was in 2014, situated at the nexus of this technological progress, community health and whole person care. With greater demands for data of increasing volumes, veracities and validities to meet these practice-based needs, what then constitutes primary ‘data’ in primary care? In what forms does this data come, and for what/whom should it serve in the post genomic era? This article takes up the ethical, legal and social dimensions of these questions as they relate to the precision medicine movement in North America, with particular attention to emerging synergies between fields such as epigenetics and data requirements needed to practice ‘data-intensive’ primary care. 


Keywords


genomics, primary care, big data, ethics, learning healthcare system, precision medicine

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References


Precision Medicine Initiative (PMI) Working Group. The precision medicine initiative cohort program – building a research foundation for 21st century medicine. Vol. Sept 17, Precision Medicine Initiative (PMI) Working Group Report to the Advisory Committee to the Director, NIH. 2015.

Hafen E, Kossmann D, Brand A. Health data cooperatives - Citizen empowerment. Methods Inf Med. 2014;53(2):82–6.

Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, et al. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet. 2015 Jul 1;52(7):431–7.

Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016;98(6):1051–66.

Schmietow B. Ethical dimensions of dynamic consent in data-intense biomedical research-paradigm shift, or Red Herring? In: Ethics and Governance of Biomedical Research. Switzerland: Springer International Publishing Switzerland; 2016. p. 163–73.

Kaye J, Whitley EA, Lund D, Morrison M, Teare H, Melham K. Dynamic consent: a patient interface for twenty-first century research networks. Eur J Hum Genet. Nature Publishing Group; 2015;23(10):141–6.

Department of Homeland Security, Department of Agriculture, Department of Energy, National Aeronautics and Space Administration, Department of Commerce, Social Security Administration, Agency for International Development, Department of Housing and Urban and the D of T. Federal Policy for the Protection of Human Subjects. U.S. Department of Health and Human Services; 2017.

Grady C, Wendler D. Making the transition to a learning health care system. Hastings Cent Rep. 2013;43(1):32–3.

Institute of Medicine. Ed. Olsen LA, Aisner D, McGinnis JM E. The learning healthcare system: Workshop Summary. Roundtable on Evidence-Based Medicine. 2007.

Zhou SM, Fernandez-Gutierrez F, Kennedy J, Cooksey R, Atkinson M, Denaxas S, et al. Defining Disease Phenotypes in Primary Care Electronic Health Records by a Machine Learning Approach: A Case Study in Identifying Rheumatoid Arthritis. PLoS One. 2016;11(5):e0154515.

Korf BR, Berry AB, Limson M, Marian AJ, Murray MF, O’Rourke PP, et al. Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics. Genet Med. 2014;16(11):1–6.

Wright R, Saul RA. Epigenetics and Primary Care. Pediatrics. 2013;132(Supplement 3):S216-223.

Riddihough G, Zahn LM. What Is Epigenetics ? Science (80- ). 2010;330(6004):611.

McCarty C, Chisholm R. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med. 2011;

Kaye J. The tension between data sharing and the protection of privacy in genomics research. Annu Rev Genomics Hum Genet. 2012 Jan;13:415–31.

Garrison NA, Sathe NA, Antommaria AHM, Holm IA, Sanderson SC, Smith ME, et al. A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States. Genet Med. Springer Nature; 2016 Jul 19;18(7):663–71.

Arias JJ, Pham-Kanter G, Gonzalez R, Campbell EG. Trust, vulnerable populations, and genetic data sharing. J Law Biosci. 2015;(October):lsv044.

Steinsbekk KS, Kåre Myskja B, Solberg B. Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem? Eur J Hum Genet. 2013;21(9):897–902.

Dyke SO, Dove ES, Knoppers BM. Sharing Health-Related Data: A Privacy Test? Genome Med. 2016;16024:1–6.

Global Alliance for Genomics and Health (GA4GH). Data Sharing Lexicon. 2016.

Wright CF, Hurles ME, Firth H V. Principle of proportionality in genomic data sharing. Nat Rev Genet. Nature Publishing Group; 2015;17(1):1–2.

Walport M, Brest P. Sharing research data to improve public health. Lancet. 2011 Feb 12;377(9765):537–9.

Harris TL, Wyndham JM. Data Rights and Responsibilities: A Human Rights Perspective on Data Sharing. J Empir Res Hum Res Ethics. 2015;10(3):334–7.

Knoppers BM. Framework for responsible sharing of genomic and health-related data. Hugo J. Springer; 2014 Oct 17;8(1):3.

Wilbanks J, Friend SH. First, design for data sharing. Nat Biotechnol. Nature Publishing Group; 2016;1–3.

Adkins DE. Machine learning and electronic health records: A paradigm shift. Am J Psychiatry. 2017;174(2):93–4.

Vos S, van Delden JJM, van Diest PJ, Bredenoord AL. Moral Duties of Genomics Researchers: Why Personalized Medicine Requires a Collective Approach. Trends Genet. Elsevier Ltd; 2017;33(2):118–28.

Evans JP. Return of results to the families of children in genomic sequencing: tallying risks and benefits. Genet Med. American College of Medical Genetics and Genomics; 2013 Jun;15(6):435–6.

Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, et al. Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board. Genet Med. American College of Medical Genetics and Genomics; 2014 Jul;16(7):547–52.

Knoppers BM, Deschênes M, Zawati MH, Tassé AM. Population studies: return of research results and incidental findings Policy Statement. Eur J Hum Genet. Macmillan Publishers Limited; 2013 Mar;21(3):245–7.

Knoppers BM, Zawati MH, Sénécal K. Return of genetic testing results in the era of whole-genome sequencing. Nat Rev Genet. Nature Publishing Group; 2015;16(9):553–9.

Kaye C, Korf B. Genetic literacy and competency. Pediatrics. 2013;132(Suppl 3):S224-30.

Agurs-Collins T, Ferrer R, Ottenbacher A, Waters EA, O’Connell ME, Hamilton JG. Public Awareness of Direct-to-Consumer Genetic Tests: Findings from the 2013 U.S. Health Information National Trends Survey. J Cancer Educ. 2015;30(4):799–807.

Bartlett G, Avard D, Knoppers BM. A new twist on an old problem: primary care physicians and results from direct-to-consumer genetic testing. Per Med. 2013 Nov;10(8):827–33.

Thorogood A, Deschênes St-Pierre C, Knoppers BM. Substitute Consent to Data Sharing: A Way Forward for International Dementia Research? Oxford J Law Biosci. 2016;1–26.

Burstein MD, Robinson JO, Hilsenbeck SG, McGuire AL, Lau CC. Pediatric data sharing in genomic research: attitudes and preferences of parents. Pediatrics. 2014 Apr;133(4):690–7.

McGuire AL, Oliver JM, Slashinski MJ, Graves JL, Wang T, Kelly PA, et al. To share or not to share: A randomized trial of consent for data sharing in genome research. Genet Med. 2011 Nov;13(11):948–55.

Faden RR, Kass NE, Goodman SN, Pronovost P, Beauchamp TL, Ethics C. An Ethics Framework for a Learning Health Care System: Hastings Cent Rep. 2013;43(1):S16–27.

Dragusin R, Petcu P, Lioma C, Larsen B, J??rgensen HL, Cox IJ, et al. FindZebra: A search engine for rare diseases. Int J Med Inform. Elsevier Ireland Ltd; 2013;82(6):528–38.

Mascalzoni D, Paradiso A, Hansson M. Rare disease research: Breaking the privacy barrier. Appl Transl Genomics. The Authors; 2014;3(2):23–9.

Darquy S, Moutel G, Lapointe A-S, D’Audiffret D, Champagnat J, Guerroui S, et al. Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project. Eur J Hum Genet. Macmillan Publishers Limited; 2015 Jun 17;epub ahead.

Brownstein CA, Holm IA, Ramoni R, Goldstein DB. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct;36(10):985–8.

Sham PC, Purcell SM. Statistical power and significance testing in large-scale genetic studies. Nat Rev Genet. Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.; 2014 May;15(5):335–46.

Rehm HL. Evolving health care through personal genomics. Nat Rev Genet. Nature Publishing Group; 2017;18(4):259–67.

Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum. 1999;64(4):949–62.

Fernandez C V, Strahlendorf C, Avard D, Knoppers BM, O’Connell C, Bouffet E, et al. Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting. Genet Med. 2013 Jul;15(7):558–64.

Burke W, Matheny Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, et al. Recommendations for returning genomic incidental findings? We need to talk! Genet Med. American College of Medical Genetics and Genomics; 2013 Nov;15(11):854–9.

Harris ED, Ziniel SI, Amatruda JG, Clinton CM, Savage SK, Taylor PL, et al. The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. Genet Med. 2012;14(3):330–7.

Hughes LS, Phillips RL, DeVoe JE, Bazemore AW. Community Vital Signs: Taking the Pulse of the Community While Caring for Patients. J Am Board Fam Med. 2016;29(3):419–22.

Friesen P, Kearns L, Redman B, Caplan AL. Rethinking the Belmont Report? Am J Bioeth. 2017;17(7):15–21.

Pearl O ’rourke P, Healthcare P. The Final Rule: When the Rubber Meets the Road. 2017;5161(July).

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul;15(7):565–74.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–23.

Eggington J, Burbidge L, Copeland K, Roa B, Pruss D, Bowles K, et al. Current Variant of Uncertain Significance Rates in BRCA1 , BRCA2 and Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) Testing. In 2012. p. 1–3.

Gymrek M, McGuire A, Golan D, Halperin E. Identifying personal genomes by surname inference. Science (80- ). 2013;

Shringarpure SS, Bustamante CD. Privacy Risks from Genomic Data-Sharing Beacons. Am J Hum Genet. The Authors; 2015;97(5):631–46.




DOI: http://dx.doi.org/10.18103/imr.v3i9.558

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