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Journal of Community Genetics

, Volume 9, Issue 3, pp 283–291 | Cite as

Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach

  • Lauren Puryear
  • Natalie Downs
  • Andrea Nevedal
  • Eleanor T. Lewis
  • Kelly E. Ormond
  • Maria Bregendahl
  • Carlos J. Suarez
  • Sean P. David
  • Steven Charlap
  • Isabella Chu
  • Steven M. Asch
  • Neda Pakdaman
  • Sang-ick Chang
  • Mark R. Cullen
  • Latha Palaniappan
Original Article

Abstract

While genetic testing gains adoption in specialty services such as oncology, neurology, and cardiology, use of genetic and genomic testing has yet to be adopted as widely in primary care. The purpose of this study is to identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care. Patient and PCP perspectives were assessed through a mixed-method approach combining an online survey and semi-structured interviews in a primary care department of a large academic medical institution. A convenience sample of 100 adult primary care patients and 26 PCPs was gathered. The survey and interview questions focused on perceptions of genetic testing, experience with genetic testing, and expectations of genetic services in primary care. Patients felt that their PCP was knowledgeable about genetic testing and expected their PCP to be the first to recognize a need for genetic testing based on family history. Nonetheless, patients reported that PCPs rarely used family history information to discuss genetic risks or order testing. In contrast, PCPs felt uncertain about the clinical utility and scientific value of genetic testing. PCPs were concerned that genetic testing could cause anxiety, frustration, discrimination, and reduced insurability, and that there was unequal access to testing. PCPs described themselves as being “gatekeepers” to genetic testing but did not feel confident or have the desire to become experts in genetic testing. However, PCPs were open to increasing their working knowledge of genetic testing. Within this academic medical center, there is a gap between what patients expect and what primary care providers feel they are adequately prepared to provide in terms of genetic testing services.

Keywords

Genetics Patient-centered care Physician decision support Primary care Personalized medicine 

Notes

Acknowledgments

We would like to thank the Division of Primary Care and Population Health (PCPH) of Stanford University School of Medicine for providing access to the Stanford Research Registry and providing funds to patient survey respondents to allocate to a PCPH research topic of their choice. This work was supported by Stanford Health Care and the Stanford Clinical and Translational Science Award (CTSA) to Spectrum (UL1 TR001085). The CTSA program is led by the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not necessarily represent the official views of Stanford Health Care or the NIH. Lastly, we would like to acknowledge Stanford Translational Research Integrated Database Environment (STRIDE), a research and development project at Stanford University which creates a standards-based informatics platform supporting clinical and translational research.

Compliance with ethical standards

This study was supported by Stanford Health Care and the Stanford Clinical and Translational Science Award (CTSA) to Spectrum (UL1 TR001085). Ethics approval was obtained from the University’s Institutional Review Board, whose identification was deliberately omitted to protect patients’ identities.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Conflict of interest

Lauren Puryear, Natalie Downs, Andrea Nevedal, Eleanor T. Lewis, Kelly E. Ormond, Maria Bregendahl, Carlos J. Suarez, Sean P. David, Steven Charlap, Isabella Chu, Steven M. Asch, Neda Pakdaman, Sang-ick Chang, Mark R. Cullen, and Latha Palaniappan declare no conflict of interest.

Supplementary material

12687_2017_349_MOESM1_ESM.pdf (90 kb)
ESM 1 (PDF 90 kb)
12687_2017_349_MOESM2_ESM.pdf (66 kb)
ESM 2 (PDF 65 kb)
12687_2017_349_MOESM3_ESM.pdf (28 kb)
ESM 3 (PDF 27 kb)

References

  1. Acton RT, Burst NM, Casebeer L, Ferguson SM, Greene P, Laird BL, Leviton L (2000) Knowledge, attitudes, and behaviors of Alabama’s primary care physicians regarding cancer genetics. Acad Med 75(8):850–852.  https://doi.org/10.1097/00001888-200008000-00021 CrossRefPubMedGoogle Scholar
  2. Bloss CS, Schork NJ, Topol EJ (2011) Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med 364(6):524–534.  https://doi.org/10.1056/NEJMoa1011893.Effect CrossRefPubMedPubMedCentralGoogle Scholar
  3. Bloss CS, Wineinger NE, Darst BF, Schork NJ, Topol EJ (2013) Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet 50(6):393–400.  https://doi.org/10.1136/jmedgenet-2012-101207 CrossRefPubMedGoogle Scholar
  4. Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3(May 2015):77–101.  https://doi.org/10.1191/1478088706qp063oa CrossRefGoogle Scholar
  5. Centers for Disease Control and Prevention (2011) Lynch Syndrome EGAPP recommendationGoogle Scholar
  6. Chambers C, Axell-house D, Mills G, Bittner-Fagan H, Rosenthal M, Johnson M, Stello B (2015) Primary care physicians’ experience and confidence with genetic testing and perceived barriers to genomic medicine. J Fam Med 2(2):1–7Google Scholar
  7. Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL et al (2016) Are physicians prepared for whole genome sequencing? A qualitative analysis. Clin Genet 89(2):228–234.  https://doi.org/10.1111/cge.12626 CrossRefPubMedGoogle Scholar
  8. David SP, Johnson SG, Berger AC, Feero WG, Terry SF, Green LA, Phillips RL, Ginsburg GS (2015) Making personalized health care even more personalized: insights from activities of the IOM genomics roundtable. Ann Fam Med 13(4):373–380.  https://doi.org/10.1370/afm.1772.Roundtable CrossRefPubMedPubMedCentralGoogle Scholar
  9. Edwards ST, Mafi JN, Landon BE (2014) Trends and quality of care in outpatient visits to generalist and specialist physicians delivering primary care in the United States, 1997-2010. J Gen Intern Med 29(6):947–955.  https://doi.org/10.1007/s11606-014-2808-y CrossRefPubMedPubMedCentralGoogle Scholar
  10. EGAPP Working Group (2016) EGAPP Working Group Recommendations. Retrieved March 22, 2016, from http://www.egappreviews.org/recommendations/index.htm
  11. Emery J, Kumar S, Smith H (1998) Patient understanding of genetic principles and their expectations of genetic services within the NHS: a qualitative study. Community Genet 1(2):78–83.  https://doi.org/10.1159/000016141 CrossRefPubMedGoogle Scholar
  12. Feldman EA (2012) The genetic information nondiscrimination act (GINA): public policy and medical practice in the age of personalized medicine. J Gen Intern Med 27(6):743–746.  https://doi.org/10.1007/s11606-012-1988-6 CrossRefPubMedPubMedCentralGoogle Scholar
  13. Fitzgerald-Butt SM, Klima J, Kelleher K, Chisolm D, McBride KL (2014) Genetic knowledge and attitudes of parents of children with congenital heart defects. Am J Med Genet A 164A(12):3069–3075.  https://doi.org/10.1002/ajmg.a.36763 CrossRefPubMedGoogle Scholar
  14. Green RC, Lautenbach D, McGuire AL (2015) GINA, genetic discrimination, and genomic medicine. N Engl J Med 372(5):397–399.  https://doi.org/10.1056/NEJMp1002530 CrossRefPubMedGoogle Scholar
  15. Haga S, Burke W, Ginsburg G, Mills R, Agans R (2012) Primary care physicians’ knowledge of and experience with pharmacogenetic testing. Clin Genet 82(4):388–394.  https://doi.org/10.1111/j.1399-0004.2012.01908.x CrossRefPubMedPubMedCentralGoogle Scholar
  16. Haga SB, Barry WT, Mills R, Ginsburg GS, Svetkey L, Sullivan J, Willard HF (2013) Public knowledge of and attitudes toward genetics and genetic testing. Genet Test Mol Biomarkers 17(4):327–335.  https://doi.org/10.1089/gtmb.2012.0350 CrossRefPubMedPubMedCentralGoogle Scholar
  17. Hall MJ, Forman AD, Montgomery SV, Rainey KL, Daly MB (2014) Understanding patient and provider perceptions and expectations of genomic medicine. J Surg Oncol (April 2014), 9–17. doi: https://doi.org/10.1002/jso.23712
  18. Hamburg MA, Collins FS (2010) The path to personalized medicine. N Engl J Med 363(4):301–304.  https://doi.org/10.1056/NEJMp1002530 CrossRefPubMedGoogle Scholar
  19. Henneman L, Timmermans DRM, Van Der Wal G (2006) Public attitudes toward genetic testing: perceived benefits and objections. Genet Test 10(2):139–145.  https://doi.org/10.1089/gte.2006.10.139 CrossRefPubMedGoogle Scholar
  20. Hooker GW, Peay H, Erby L, Bayless T, Biesecker BB, Roter DL (2014) Genetic literacy and patient perceptions of IBD testing utility and disease control: a randomized vignette study of genetic testing. Inflamm Bowel Dis 20(5):901–908.  https://doi.org/10.1016/j.biotechadv.2011.08.021.Secreted CrossRefPubMedPubMedCentralGoogle Scholar
  21. Horowitz CR, Abul-Husn NS, Ellis S, Ramos MA, Negron R, Suprun M, Zinberg RE, Sabin T, Hauser D, Calman N, Bagiella E, Bottinger EP (2015) Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry. Contemp Clin Trials 47:101–108.  https://doi.org/10.1016/j.cct.2015.12.020 CrossRefPubMedPubMedCentralGoogle Scholar
  22. Houwink EJ, van Luijk SJ, Henneman L, van der Vleuten C, Jan Dinant G, Cornel MC (2011) Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Fam Pract 12(5):9.  https://doi.org/10.1186/1471-2296-12-5 Google Scholar
  23. Kaphingst KA, Facio FM, Cheng M-R, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG (2012) Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet 82(5):408–415.  https://doi.org/10.1111/j.1399-0004.2012.01909.x.Effects CrossRefPubMedPubMedCentralGoogle Scholar
  24. Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, Leu CS, Appelbaum PS (2013) Attitudes and practices among internists concerning genetic testing. J Genet Couns 22(1):90–100.  https://doi.org/10.1007/s10897-012-9504-z CrossRefPubMedGoogle Scholar
  25. Korf BR, Berry AB, Limson M, Marian AJ, Murray MF, O’Rourke PP, Passamani ER, Relling MV, Tooker J, Tsongalis GJ, Rodriguez LL (2014) 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 16(11):1–6.  https://doi.org/10.1038/gim.2014.35 CrossRefGoogle Scholar
  26. Mainous AG, Johnson SP, Chirina S, Baker R (2013) Academic family physicians’ perception of genetic testing and integration into practice: a CERA study. Fam Med 45(4):257–262PubMedGoogle Scholar
  27. Miles MB, Huberman AM, Saldana J (2013) Qualitative data analysis: an expanded sourcebook, 3rd edn. SAGE Publications, Thousand OaksGoogle Scholar
  28. Morren M, Rijken M, Baanders AN, Bensing J (2007) Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease. Patient Educ Couns 65(2):197–204.  https://doi.org/10.1016/j.pec.2006.07.005 CrossRefPubMedGoogle Scholar
  29. Pitceathly RDS (2016) Mitochondrial extrapyramidal syndromes: using age and phenomenology to guide genetic testing. JAMA Neurol 1(6):5–7.  https://doi.org/10.1001/jamaneurol.2016.0756 Google Scholar
  30. Rich EC, Burke W, Heaton CJ, Haga S, Pinsky L, Short MP, Acheson L (2004) Reconsidering the family history in primary care. J Gen Intern Med 19(3):273–280.  https://doi.org/10.1111/j.1525-1497.2004.30401.x CrossRefPubMedPubMedCentralGoogle Scholar
  31. Saldana J (2015) Coding Manual for Qualitative Researchers, 3rd Edition. (J. Seaman, Ed.). SAGE PublicationsGoogle Scholar
  32. Saul RA (2013) Genetic and genomic literacy in pediatric primary care. Pediatrics 132(Suppl 3):S198–S202.  https://doi.org/10.1542/peds.2013-1032C CrossRefPubMedGoogle Scholar
  33. Scheuner MT, Hamilton AB, Peredo J, Sale TJ, Austin C, Gilman SC, Bowen MS, Goldzweig CL, Lee M, Mittman BS, Yano EM (2014) A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians. Genet Med 16(1):60–69.  https://doi.org/10.1038/gim.2013.75 CrossRefPubMedGoogle Scholar
  34. Schwartz LM, Woloshin S, Black WC, Welch HG (1997) The role of numeracy in understanding the benefit of screening mammography. Ann Intern Med 127(11):966–972.  https://doi.org/10.7326/0003-4819-127-11-199712010-00003 CrossRefPubMedGoogle Scholar
  35. Tung N (2011) Management of women with BRCA mutations: a 41-year-old woman with a BRCA mutation and a recent history of breast cancer. JAMA 305(21):2211–2220.  https://doi.org/10.1001/jama.2011.678 CrossRefPubMedGoogle Scholar
  36. U.S. Preventive Services Task Force (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143(5):355–361 Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16144894 CrossRefGoogle Scholar
  37. Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J et al (2014) The MedSeq project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials 15(85):85.  https://doi.org/10.1186/1745-6215-15-85 CrossRefPubMedPubMedCentralGoogle Scholar
  38. Vassy JL, Christensen KD, Slahinski MJ, Lautenbach DM, Raghavan S, Robinson JO et al (2015) Someday it will be the norm’: physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project. Personalized Med 12(1):23–32.  https://doi.org/10.2217/pme.14.68 CrossRefGoogle Scholar
  39. Wolf MJ, Noeth D, Rammohan C, Shah SH (2016) Complexities of genetic testing in familial dilated cardiomyopathy. Circ Cardiovasc Genet 9(1):95–99.  https://doi.org/10.1161/CIRCGENETICS.115.001157 CrossRefPubMedPubMedCentralGoogle Scholar
  40. Wood ME, Flynn BS, Stockdale A (2013) Primary care physician management, referral, and relations with specialists concerning patients at risk for cancer due to family history. Public Health Genomics 16(3):75–82.  https://doi.org/10.1159/000343790 CrossRefPubMedPubMedCentralGoogle Scholar
  41. Zazove P, Plegue MA, Uhlmann WR, Ruffin MT (2015) Prompting primary care providers about increased patient risk as a result of family history: does it work? J Am Board Fam Med 28(3):334–342.  https://doi.org/10.3122/jabfm.2015.03.140149 CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Lauren Puryear
    • 1
  • Natalie Downs
    • 1
  • Andrea Nevedal
    • 2
  • Eleanor T. Lewis
    • 2
  • Kelly E. Ormond
    • 3
  • Maria Bregendahl
    • 4
  • Carlos J. Suarez
    • 5
  • Sean P. David
    • 4
  • Steven Charlap
    • 6
  • Isabella Chu
    • 7
  • Steven M. Asch
    • 4
  • Neda Pakdaman
    • 4
  • Sang-ick Chang
    • 4
  • Mark R. Cullen
    • 7
  • Latha Palaniappan
    • 4
  1. 1.Department of GeneticsStanford University School of MedicineStanfordUSA
  2. 2.Center for Innovation to Implementation, VA Palo Alto Health Care SystemLivermoreUSA
  3. 3.Department of Genetics and Stanford Center for Biomedical EthicsStanford University School of MedicineStanfordUSA
  4. 4.Division of Primary Care and Population HealthStanford University School of MedicineStanfordUSA
  5. 5.Department of PathologyStanford University School of MedicineStanfordUSA
  6. 6.GeneYes, LLCPalo AltoUSA
  7. 7.Center for Population Health SciencesStanford UniversityStanfordUSA

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