Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative
Abstract
:1. Introduction
2. Materials and Methods
2.1. Setting
2.2. Interview Process
2.3. Sampling Strategy
2.4. Data Analysis
3. Results
3.1. Disclosure Process Assessment Domain
“I used the letter. I thought [it was] very useful, and then other reference information I thought was good because you don’t always remember… everything from the appointment” (PEX)
“Well, like I said, I am not a very medical person, and you know, most of it was like reading Greek to me.” (FHxNeg)
3.2. Psychological Response Domain
“… but we were wondering with my older [child] who works for a company, if he found out he had this kind of result, would that affect his healthcare coverage.” (FHxNeg)
“I was kind of overwhelmed because I was having other issues, and now it’s like, is that what was causing my other issues or…Yeah, I don’t know which came first. The chicken or the egg, you know.” (PEX)
“… a couple of weeks ago they did find a tumor in my stomach. So, I’m trying to talk my other relatives into being tested and my child, and my brother…I tried to explain to them…It just makes you more aware of what could possibly be going on. I found it interesting and thought it was something that I should do.” (Cascade)
“…I knew that I had high cholesterol, I had heart disease. It’s rampant in our family. But, what it did for me was we could then pass it on to other people in the family, that it was genetic. And I have a nephew who is young, I think about 10, and they checked his cholesterol and it’s high already…it’s a good thing that that was investigated.” (FH)
“… we’ve got a lot of other issues at our age. There are probably other things that are going to knock us off this world more than what anything this will affect us, you know.” (FHxNeg)
“Well, it’s the last thing on my mind. I have other more serious health issues. I was diagnosed recently with ALS, and so the last thing on my mind is the BRCA1 gene.” (FHxNeg)
“Well, the other medical information has been pretty generic. You’re old. You’re fat. You need to lose weight, things like that. The genetic testing is a little bit more personal, but it wasn’t upsetting. You know, it’s an indicator. It’s not a guarantee. So, it didn’t raise concern. It just raised awareness.” (PEX)
“I’m glad I know. I would rather know this way than by finding out I had cancer…so this is ‘the best-case scenario’.” (FHxneg)
“I didn’t really feel that there was a strong family history of breast cancer, so when it came back positive, I was kind of like, wow, how unfortunate…you know, why am I the one?”
“I met with the genomics team…it went well. I turned to my husband, and I turned to my aunt, and they were very supportive. They’re my go-to people. I think I’ve been pretty positive, knowing now I got it and I’m going to deal with it, and I got it covered, so it will be okay.” (PEX)
3.3. Behavior Change Domain
“Now I’ve accepted it, and we do all the preventatives. I, you know, take my pills. I go in every 6 months for a mammogram, 6 months later for an MRI, 6 months later for oncology, and I’ve accepted it” (FHxNeg)
“I was always pretty good… before this. Like going for the mammograms and having the checkups, so really for me it didn’t change anything.” (FHxNeg)
“If he [interviewee’s husband] were not working, … I would not pursue it probably as actively. I would hold off. I definitely would hold off.” (PEX)
“I don’t really think about it, how it’s gonna affect me. I think there are other things that are gonna take me out of the picture long before any of… I could be wrong, 100% wrong, you know, but like I said, I’ve got more things that are on my mind than something like that” (FHxNeg)
3.4. Family Communication Domain
4. Discussion
5. Limitations
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
- Williams, M.S. Population Screening in Health Systems. Annu. Rev. Genom. Hum. Genet. 2022, 23, 549–567. [Google Scholar] [CrossRef] [PubMed]
- Jones, L.K.; Strande, N.T.; Calvo, E.M.; Chen, J.; Rodriguez, G.; McCormick, C.Z.; Hallquist, M.L.G.; Savatt, J.M.; Rocha, H.; Williams, M.S.; et al. A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System. Front. Genet. 2022, 13, 883073. [Google Scholar] [CrossRef]
- Robinson, J.O.; Wynn, J.; Biesecker, B.; Biesecker, L.G.; Bernhardt, B.; Brothers, K.B.; Chung, W.K.; Christensen, K.D.; Green, R.C.; McGuire, A.L.; et al. Psychological outcomes related to exome and genome sequencing result disclosure: A meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. Genet. Med. 2019, 21, 2781–2790. [Google Scholar] [CrossRef]
- Heshka, J.T.; Palleschi, C.; Howley, H.; Wilson, B.; Wells, P.S. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet. Med. 2008, 10, 19–32. [Google Scholar] [CrossRef]
- Oliveri, S.; Ferrari, F.; Manfrinati, A.; Pravettoni, G. A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis among Cardiovascular, Neurodegenerative and Cancer Diseases. Front. Genet. 2018, 9, 624. [Google Scholar] [CrossRef]
- Williams, M.S. Clinical Genome Sequencing: Psychological Considerations; Tibber, A., Biesecker, B.B., Eds.; Academic Press: London, UK, 2019. [Google Scholar]
- Croyle, R.T.; Smith, K.R.; Botkin, J.R.; Baty, B.; Nash, J. Psychological responses to BRCA1 mutation testing: Preliminary findings. Health Psychol. 1997, 16, 63–72. [Google Scholar] [CrossRef]
- Hart, M.R.; Biesecker, B.B.; Blout, C.L.; Christensen, K.D.; Amendola, L.M.; Bergstrom, K.L.; Biswas, S.; Bowling, K.M.; Brothers, K.B.; Conlin, L.K.; et al. Secondary findings from clinical genomic sequencing: Prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet. Med. 2019, 21, 1100–1110. [Google Scholar] [CrossRef]
- Green, R.C.; Berg, J.S.; Grody, W.W.; Kalia, S.S.; Korf, B.R.; Martin, C.L.; McGuire, A.L.; Nussbaum, R.L.; O’Daniel, J.M.; Ormond, K.E.; et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013, 15, 565–574. [Google Scholar] [CrossRef]
- Kalia, S.S.; Adelman, K.; Bale, S.J.; Chung, W.K.; Eng, C.; Evans, J.P.; Herman, G.E.; Hufnagel, S.B.; Klein, T.E.; Korf, B.R.; et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics. Genet. Med. 2017, 19, 249–255. [Google Scholar] [CrossRef]
- ACMG Board of Directors. The use of ACMG secondary findings recommendations for general population screening: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 2019, 21, 1467–1468. [Google Scholar] [CrossRef] [Green Version]
- Hadjistavropoulos, H.D.; Craig, K.D.; Hadjistavropoulos, T. Cognitive and behavioral responses to illness information: The role of health anxiety. Behav. Res. Ther. 1998, 36, 149–164. [Google Scholar] [CrossRef]
- Rauscher, E.A. Investigating Uncertainty in Genetic Counseling Encounters: Managing Information About Genetic Cancer Risk. J. Health Commun. 2017, 22, 896–904. [Google Scholar] [CrossRef]
- Taber, J.M.; Klein, W.M.P.; Ferrer, R.A.; Han, P.; Lewis, K.L.; Biesecker, L.G.; Biesecker, B.B. Perceived ambiguity as a barrier to intentions to learn genome sequencing results. J. Behav. Med. 2015, 38, 715–726. [Google Scholar] [CrossRef] [PubMed]
- Taber, J.M.; Klein, W.M.; Persky, S.; Ferrer, R.A.; Kaufman, A.R.; Thai, C.L.; Harris, P.R. Interest in and reactions to genetic risk information: The role of implicit theories and self-affirmation. Soc. Sci. Med. 2017, 190, 101–110. [Google Scholar] [CrossRef]
- Carey, D.J.; Fetterolf, S.N.; Davis, F.D.; Faucett, W.A.; Kirchner, H.L.; Mirshahi, U.; Murray, M.F.; Smelser, D.T.; Gerhard, G.S.; Ledbetter, D.H. The Geisinger MyCode community health initiative: An electronic health record-linked biobank for precision medicine research. Genet. Med. 2016, 18, 906–913. [Google Scholar] [CrossRef]
- Faucett, W.A.; Davis, D. How Geisinger made the case for an institutional duty to return genomic results to biobank participants. Appl. Transl. Genom. 2016, 8, 33–35. [Google Scholar] [CrossRef]
- Williams, M.S.; Buchanan, A.H.; Davis, F.D.; Faucett, W.A.; Hallquist, M.L.G.; Leader, J.B.; Martin, C.L.; McCormick, C.Z.; Meyer, M.N.; Murray, M.F.; et al. Patient-Centered Precision Health In A Learning Health Care System: Geisinger’s Genomic Medicine Experience. Health Aff. 2018, 37, 757–764. [Google Scholar] [CrossRef]
- Kelly, M.A.; Leader, J.B.; Wain, K.E.; Bodian, D.; Oetjens, M.T.; Ledbetter, D.H.; Martin, C.L.; Strande, N.T. Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project. Am. J. Med. Genet. C Semin. Med. Genet. 2021, 187, 83–94. [Google Scholar] [CrossRef]
- Schwartz, M.L.; McCormick, C.Z.; Lazzeri, A.L.; Lindbuchler, D.M.; Hallquist, M.L.; Manickam, K.; Buchanan, A.H.; Rahm, A.K.; Giovanni, M.A.; Frisbie, L.; et al. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am. J. Hum. Genet. 2018, 103, 328–337. [Google Scholar] [CrossRef]
- Patton, M.Q. Qualitative Evaluation and Research Methods, 2nd ed.; Sage: Newbury Park, CA, USA, 1990. [Google Scholar]
- Jones, L.K.; Rahm, A.K.; Manickam, K.; Butry, L.; Lazzeri, A.; Corcoran, T.; Komar, D.; Josyula, N.S.; Pendergrass, S.A.; Sturm, A.C.; et al. Healthcare Utilization and Patients’ Perspectives after Receiving a Positive Genetic Test for Familial Hypercholesterolemia. Circ. Genom. Precis. Med. 2018, 11, e002146. [Google Scholar] [CrossRef]
- Beebe, J. Rapid Assessment Process: An Introduction; AltaMira Press: New York, NY, USA, 2001. [Google Scholar]
- Padgett, D.K. Qualitative and Mixed Methods in Public Health; Sage Publications: Washington, DC, USA, 2011. [Google Scholar]
- Timmermans, S.; Tavory, I. Theory Construction in Qualitative Research:From Grounded Theory to Abductive Analysis. Sociol. Theory 2012, 30, 167–186. [Google Scholar] [CrossRef]
- Saldana, J. The Coding Manual for Qualitative Researchers, 4th ed.; Sage: London, UK, 2021. [Google Scholar]
- Landis, J.R.; Koch, G.G. The measurement of observer agreement for categorical data. Biometrics 1977, 33, 159–174. [Google Scholar] [CrossRef] [PubMed]
- O’Brien, B.C.; Harris, I.B.; Beckman, T.J.; Reed, D.A.; Cook, D.A. Standards for reporting qualitative research: A synthesis of recommendations. Acad. Med. 2014, 89, 1245–1251. [Google Scholar] [CrossRef] [PubMed]
- Tong, A.; Sainsbury, P.; Craig, J. Consolidated criteria for reporting qualitative research (COREQ): A 32-item checklist for interviews and focus groups. Int. J. Qual. Health Care 2007, 19, 349–357. [Google Scholar] [CrossRef]
- Lynch, J.; Sharp, R.; Aufox, S.; Bland, S.; Blout, C.; Bowen, D.; Buchanan, A.; Halverson, C.; Harr, M.; Hebbring, S.; et al. Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. J. Pers. Med. 2020, 10, 38. [Google Scholar] [CrossRef]
- Evans, J.P.; Burke, W. Genetic exceptionalism. Too much of a good thing? Genet. Med. 2008, 10, 500–501. [Google Scholar] [CrossRef]
- Lazarus, R.S.; Folkman, S. Transactional theory and research on emotions and coping. Eur. J. Personal. 1987, 1, 141–169. [Google Scholar] [CrossRef]
- Athens, B.A.; Caldwell, S.L.; Umstead, K.L.; Connors, P.; Brenna, E.; Biesecker, B.B. A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling. J. Genet. Couns. 2017, 26, 902–933. [Google Scholar] [CrossRef]
- Buchanan, A.H.; Kirchner, H.L.; ScM, M.L.B.S.; Ms, M.A.K.; Ms, T.S.; Jones, L.K.; Msc, M.L.G.H.; Rocha, H.; Betts, M.; Ms, R.S.; et al. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet. Med. 2020, 22, 1874–1882. [Google Scholar] [CrossRef]
- Savatt, J.M.; Ortiz, N.M.; Thone, G.M.; McDonald, W.S.; Kelly, M.A.; Berry, A.S.F.; Alvi, M.M.; Hallquist, M.L.G.; Malinowski, J.; Purdy, N.C.; et al. Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort. BMC Med. 2022, 20, 205. [Google Scholar] [CrossRef]
- Buchanan, A.H.; Manickam, K.; Meyer, M.N.; Wagner, J.K.; Hallquist, M.L.; Williams, J.L.; Rahm, A.K.; Williams, M.S.; Chen, Z.-M.E.; Shah, C.K.; et al. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet. Med. 2018, 20, 554–558. [Google Scholar] [CrossRef] [PubMed]
- Lundahl, B.; Moleni, T.; Burke, B.L.; Butters, R.; Tollefson, D.; Butler, C.; Rollnick, S. Motivational interviewing in medical care settings: A systematic review and meta-analysis of randomized controlled trials. Patient Educ. Couns. 2013, 93, 157–168. [Google Scholar] [CrossRef] [PubMed]
- Jones, L.K.; Chen, N.; Hassen, D.; McMinn, M.; Klinger, T.; Hartzel, D.N.; Veenstra, D.; Spencer, S.; Snyder, S.R.; Peterson, J.F.; et al. Impact of a population genomic screening program on health behaviors related to familial hypercholesterolemia risk reduction. Circ. Genom. Precis. Med. 2022, 15, e003549. [Google Scholar] [CrossRef] [PubMed]
- Prochaska, J.O.; DiClemente, C.C. Stages and processes of self-change of smoking: Toward an integrative model of change. J. Consult. Clin. Psychol. 1983, 51, 390–395. [Google Scholar] [CrossRef] [PubMed]
- Sharaf, R.N.; Myer, P.; Stave, C.D.; Diamond, L.C.; Ladabaum, U. Uptake of genetic testing by relatives of lynch syndrome probands: A systematic review. Clin. Gastroenterol. Hepatol. 2013, 11, 1093–1100. [Google Scholar] [CrossRef]
- Chivers Seymour, K.; Addington-Hall, J.; Lucassen, A.M.; Foster, C.L. What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. J. Genet. Couns. 2010, 19, 330–342. [Google Scholar] [CrossRef]
- Gaff, C.L.; Clarke, A.J.; Atkinson, P.; Sivell, S.; Elwyn, G.; Iredale, R.; Thornton, H.; Dundon, J.; Shaw, C.; Edwards, A. Process and outcome in communication of genetic information within families: A systematic review. Eur. J. Hum. Genet. 2007, 15, 999–1011. [Google Scholar] [CrossRef]
- Wynn, J.; Milo Rasouly, H.; Vasquez-Loarte, T.; Saami, A.M.; Weiss, R.; Ziniel, S.I.; Appelbaum, P.S.; Clayton, E.W.; Christensen, K.D.; Fasel, D.; et al. Do research participants share genomic screening results with family members? J. Genet. Couns. 2022, 31, 447–458. [Google Scholar] [CrossRef]
- Schwiter, R.; Rahm, A.K.; Williams, J.L.; Sturm, A.C. How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: A Mini-Review. Curr. Genet. Med. Rep. 2018, 6, 21–27. [Google Scholar] [CrossRef]
- Suther, S.; Kiros, G.E. Barriers to the use of genetic testing: A study of racial and ethnic disparities. Genet. Med. 2009, 11, 655–662. [Google Scholar] [CrossRef] [Green Version]
- Vogel, R.I.; Niendorf, K.; Lee, H.; Petzel, S.; Lee, H.Y.; Geller, M.A. A qualitative study of barriers to genetic counseling and potential for mobile technology education among women with ovarian cancer. Hered. Cancer Clin. Pract. 2018, 16, 13. [Google Scholar] [CrossRef] [PubMed]
- Evans, A.E.; Sturm, A.C.; Frisbie, L.; Hallquist, M.; Lazzeri, A.; Lindbuchler, D.; Manickam, K.; Murray, M.F.; McCormick, C.; Rahm, A.K.; et al. Cascade testing uptake in first-degree relatives 6 months after MyCode clinical result reporting. In Proceedings of the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting, Charlotte, NC, USA, 13 April 2018. [Google Scholar]
- Horne, J.; Madill, J.; O’Connor, C.; Shelley, J.; Gilliland, J. A Systematic Review of Genetic Testing and Lifestyle Behaviour Change: Are We Using High-Quality Genetic Interventions and Considering Behaviour Change Theory? Lifestyle Genom. 2018, 11, 49–63. [Google Scholar] [CrossRef] [PubMed]
- Turbitt, E.; Biesecker, B.B. A primer in genomics for social and behavioral investigators. Transl. Behav. Med. 2020, 10, 451–456. [Google Scholar] [CrossRef] [PubMed]
Study Cohort | |||||
---|---|---|---|---|---|
Question Purpose | General Question * | PEX | FHxNeg | FH | Cascade |
Opening/patient story | Tell me about your experience learning about the MyCode genomic information. | X | X | X | X |
Result follow-up/medical care | What have you done since finding out about this result? | X | X | X | |
Communication about result | How has your family responded to this result? | X | X | X | X |
Understanding of information and resource seeking | How do you describe this result to others? | X | X | ||
Results disclosure processes | What are your thoughts on the processes for finding out about the result? | X | X | ||
Psychological reactions to result | Please describe any effect these results had on your feelings. | X | X | X | |
Financial implications | Do you have any concerns about paying for medical care needed because of the result? | X | |||
Satisfaction with decision to participate in MyCode | Now that you have received this information, how do you feel about your decision to participate in MyCode? | X | X | ||
Decision to test for familial variant | What most motivated you to have genetic counseling and testing? | X | |||
Participant characteristics | sex, age, insurance, race/ethnicity, health literacy, employment, income | X | X | X |
Cohort | Interview Dates | Identified as Eligible | Unable to Contact | Declined Participation | Completed Interviews |
---|---|---|---|---|---|
PEX | May–August 2016 | 67 | 20 | 18 | 29 * |
(HBOC = 18; LS = 5; Long QT = 2; HCM = 2; | |||||
FH = 3) | |||||
FHxNeg | March–April 2018 | 45 | 13 | 14 | 19 |
(HBOC = 13; HCM = 6) | |||||
FH | July 2017 | 26 | 13 | 6 | 7 |
Cascade | May 2017 | 26 | 13 | 5 | 8 ** |
(HBOC = 5; LS = 2; FH = 2; PGL-PCC = 1) | |||||
Total | 164 | 59 | 43 | 63 *** |
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. |
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Baker, A.; Tolwinski, K.; Atondo, J.; Davis, F.D.; Goehringer, J.; Jones, L.K.; Pisieczko, C.J.; Sturm, A.C.; Williams, J.L.; Williams, M.S.; et al. Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative. J. Pers. Med. 2022, 12, 1511. https://doi.org/10.3390/jpm12091511
Baker A, Tolwinski K, Atondo J, Davis FD, Goehringer J, Jones LK, Pisieczko CJ, Sturm AC, Williams JL, Williams MS, et al. Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative. Journal of Personalized Medicine. 2022; 12(9):1511. https://doi.org/10.3390/jpm12091511
Chicago/Turabian StyleBaker, Anna, Kasia Tolwinski, Jamie Atondo, F. Daniel Davis, Jessica Goehringer, Laney K. Jones, Cassandra J. Pisieczko, Amy C. Sturm, Janet L. Williams, Marc S. Williams, and et al. 2022. "Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative" Journal of Personalized Medicine 12, no. 9: 1511. https://doi.org/10.3390/jpm12091511