Women's Preferences for Genetic Screening in Routine Care: A Qualitative Study

Overview

Journal Patient Educ Couns

Publisher Elsevier

Specialties Health Services
Nursing

Date 2024 Sep 20

PMID 39303503

Authors

Anne C Madeo

Wendy Kohlmann

Yi Liao

Lingzi Zhong

Erin Rothwell

Kimberly A Kaphingst

Affiliations

Soon will be listed here.

Abstract

Objective: Examine decision-making regarding when women would prefer to receive reproductive carrier and cancer predisposition screening and from what clinician.

Methods: 20 women completed in-depth interviews via Zoom exploring their views on the provision of reproductive carrier and cancer predisposition screening. Our analysis identified themes related to what informs women's preferences for when they would like to receive a genetic screening offer and by which clinician.

Results: Participants' responses to questions about when they would be interested in receiving genetic screening were best understood through the lens of the Extended Parallel Process Model. Specifically, personal utility of the information, a woman's family health history and cost were key factors in decision-making. Women considered their clinician's knowledge and their trust in and relationship with the clinician when deciding from whom they would prefer to receive an offer of genetic screening.

Conclusion: OB/GYN clinic patients may accept an offer of genetic screening from a knowledgeable and trusted clinician for carrier and cancer predisposition screening preconceptionally or prenatally.

Practice Implications: Integrating genetic reproductive and cancer predisposition screening into the care provided to reproductive age OB/GYN patients may be acceptable to this population.

References

Hardy M, Peshkin B, Rose E, Ladd M, Binion S, Tynan M . Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women. J Community Genet. 2022; 13(3):281-292. PMC: 9051789. DOI: 10.1007/s12687-022-00590-3. View

Lindor N, Johnson K, McCormick J, Klee E, Ferber M, Farrugia G . Preserving personal autonomy in a genomic testing era. Genet Med. 2013; 15(5):408-9. DOI: 10.1038/gim.2013.24. View

Malterud K . Qualitative research: standards, challenges, and guidelines. Lancet. 2001; 358(9280):483-8. DOI: 10.1016/S0140-6736(01)05627-6. View

Evans O, Gaba F, Manchanda R . Population-based genetic testing for Women's cancer prevention. Best Pract Res Clin Obstet Gynaecol. 2020; 65:139-153. DOI: 10.1016/j.bpobgyn.2020.02.007. View

Sagaser K, Malinowski J, Westerfield L, Proffitt J, Hicks M, Toler T . Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors. J Genet Couns. 2023; 32(3):540-557. DOI: 10.1002/jgc4.1676. View

Manchanda R, Loggenberg K, Sanderson S, Burnell M, Wardle J, Gessler S . Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. J Natl Cancer Inst. 2014; 107(1):379. PMC: 4301703. DOI: 10.1093/jnci/dju379. View

Weitzel J, Lagos V, Cullinane C, Gambol P, Culver J, Blazer K . Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007; 297(23):2587-95. DOI: 10.1001/jama.297.23.2587. View

Van Steijvoort E, Chokoshvili D, Cannon J, Peeters H, Peeraer K, Matthijs G . Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Hum Reprod Update. 2020; 26(3):335-355. DOI: 10.1093/humupd/dmaa001. View

Phillips K, Deverka P, Hooker G, Douglas M . Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?. Health Aff (Millwood). 2018; 37(5):710-716. PMC: 5987210. DOI: 10.1377/hlthaff.2017.1427. View

10.

Grzymski J, Elhanan G, Morales Rosado J, Smith E, Schlauch K, Read R . Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med. 2020; 26(8):1235-1239. DOI: 10.1038/s41591-020-0982-5. View

11.

Tambor E, Bernhardt B, Chase G, Faden R, Geller G, Hofman K . Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet. 1994; 55(4):626-37. PMC: 1918300. View

12.

Best S, Long J, Theodorou T, Hatem S, Lake R, Archibald A . Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review. Prenat Diagn. 2021; 41(6):708-719. PMC: 8252081. DOI: 10.1002/pd.5914. View

13.

Henneman L, Bramsen I, VAN DER Ploeg H, Ader H, van der Horst H, Gille J . Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. J Med Genet. 2001; 38(10):695-703. PMC: 1734747. DOI: 10.1136/jmg.38.10.695. View

14.

Grinzaid K, Page P, Denton J, Ginsberg J . Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening. J Genet Couns. 2014; 24(3):381-7. DOI: 10.1007/s10897-014-9800-x. View

15.

Ioannou L, McClaren B, Massie J, Lewis S, Metcalfe S, Forrest L . Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. Genet Med. 2013; 16(3):207-16. DOI: 10.1038/gim.2013.125. View

16.

Hull L, Natarajan P . Self-rated family health history knowledge among All of Us program participants. Genet Med. 2022; 24(4):955-961. PMC: 8995381. DOI: 10.1016/j.gim.2021.12.006. View

17.

Ghanouni A, Sanderson S, Pashayan N, Renzi C, Von Wagner C, Waller J . Attitudes towards risk-stratified breast cancer screening among women in England: A cross-sectional survey. J Med Screen. 2019; 27(3):138-145. DOI: 10.1177/0969141319883662. View

18.

Halbisen A, Lu C . Trends in Availability of Genetic Tests in the United States, 2012-2022. J Pers Med. 2023; 13(4). PMC: 10142561. DOI: 10.3390/jpm13040638. View

19.

Abul-Husn N, Soper E, Odgis J, Cullina S, Bobo D, Moscati A . Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med. 2020; 12(1):2. PMC: 6938627. DOI: 10.1186/s13073-019-0691-1. View

20.

Poppelaars F, Henneman L, Ader H, Cornel M, Hermens R, van der Wal G . How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Community Genet. 2004; 6(3):157-65. DOI: 10.1159/000078163. View