DNA Sequencing in Oncology: a Focus Group Study on a Duty to Recontact

Overview

Journal Future Sci OA

Specialty Biotechnology

Date 2024 Nov 23

PMID 39578423

Authors

Noor A A Giesbertz

Lars S Assen

Wim H van Harten

Annelien L Bredenoord

Affiliations

Soon will be listed here.

Abstract

Introduction: Particularly in genetics, former results can gain new meaning in the course of time. This raises questions about when professionals should recontact patients with new information. The aim of this focus group study is to clarify how different stakeholders in oncology think about the extent and limits of a duty to recontact.

Materials And Methods: One focus group with oncology patients (n = 12) and two groups with healthcare professionals (total n = 13) were conducted. In general, there was support for recontacting patients. The scope and extent of this duty was, however, perceived differently. Differences and similarities on the following six contextual factors are discussed: information features, costs and efforts, personal preferences, who is contacted, clinic or research setting, and time.

Discussion: Oncology patients were clear in their wish to receive updates while the professionals were more hesitant to consider recontact as a standard of care. This is not surprising as recontacting patients with new information would mean a shift from a approach toward an approach. This entails a different way of offering healthcare. Furthermore, the question is not only what professionals' responsibilities are, but how to design a system that complies with patients' wishes to receive updates.

References

Miller F, Hayeems R, Li L, Bytautas J . One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants. Eur J Hum Genet. 2012; 20(8):837-43. PMC: 3400736. DOI: 10.1038/ejhg.2012.24. View

Di Resta C, Galbiati S, Carrera P, Ferrari M . Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. EJIFCC. 2018; 29(1):4-14. PMC: 5949614. View

Singer C, Balmana J, Burki N, Delaloge S, Filieri M, Gerdes A . Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations. Eur J Cancer. 2018; 106:54-60. DOI: 10.1016/j.ejca.2018.10.007. View

Townsend A, Adam S, Birch P, Lohn Z, Rousseau F, Friedman J . "I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet A. 2012; 158A(10):2519-25. DOI: 10.1002/ajmg.a.35554. View

Kausmeyer D, Lengerich E, Kluhsman B, Morrone D, Harper G, Baker M . A survey of patients' experiences with the cancer genetic counseling process: recommendations for cancer genetics programs. J Genet Couns. 2006; 15(6):409-31. DOI: 10.1007/s10897-006-9039-2. View

Halverson C, Bland H, Leppig K, Marasa M, Myers M, Rasouly H . Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience. Genet Med. 2020; 22(10):1667-1672. PMC: 7521988. DOI: 10.1038/s41436-020-0863-9. View

Mersch J, Brown N, Pirzadeh-Miller S, Mundt E, Cox H, Brown K . Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing. JAMA. 2018; 320(12):1266-1274. PMC: 6233618. DOI: 10.1001/jama.2018.13152. View

Romero Arenas M, Rich T, Hyde S, Busaidy N, Cote G, Hu M . Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. Ann Surg Oncol. 2018; 25(5):1395-1402. PMC: 10013431. DOI: 10.1245/s10434-018-6366-0. View

Mwenifumbo J, Marra M . Cancer genome-sequencing study design. Nat Rev Genet. 2013; 14(5):321-32. DOI: 10.1038/nrg3445. View

10.

Otten E, Plantinga M, Birnie E, Verkerk M, Lucassen A, Ranchor A . Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. Genet Med. 2014; 17(8):668-78. DOI: 10.1038/gim.2014.173. View

11.

Beane J, Campbell J, Lel J, Vick J, Spira A . Genomic approaches to accelerate cancer interception. Lancet Oncol. 2017; 18(8):e494-e502. PMC: 6020676. DOI: 10.1016/S1470-2045(17)30373-X. View

12.

Dahle Ommundsen R, Stromsvik N, Hamang A . Assessing the relationship between patient preferences for recontact after BRCA1 or BRCA2 genetic testing and their monitoring coping style in a Norwegian sample. J Genet Couns. 2021; 31(2):554-564. DOI: 10.1002/jgc4.1526. View

13.

Mitchell C, Ploem C, Retel V, Gevers S, Hennekam R . Experts reflecting on the duty to recontact patients and research participants; why professionals should take the lead in developing guidelines. Eur J Med Genet. 2019; 63(2):103642. DOI: 10.1016/j.ejmg.2019.03.006. View

14.

Halverson C, Connors L, Wessinger B, Clayton E, Wiesner G . Patient perspectives on variant reclassification after cancer susceptibility testing. Mol Genet Genomic Med. 2020; 8(7):e1275. PMC: 7336756. DOI: 10.1002/mgg3.1275. View

15.

Carrieri D, Dheensa S, Doheny S, Clarke A, Turnpenny P, Lucassen A . Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. Eur J Hum Genet. 2017; 25(10):1106-1112. PMC: 5602023. DOI: 10.1038/ejhg.2017.122. View

16.

Carrieri D, Dheensa S, Doheny S, Clarke A, Turnpenny P, Lucassen A . Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom. Eur J Hum Genet. 2017; 25(3):275-279. PMC: 5315519. DOI: 10.1038/ejhg.2016.188. View

17.

Rasmussen V, Shepherd R, Forrest L, James P, Young M . Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack". J Genet Couns. 2019; 28(4):750-759. DOI: 10.1002/jgc4.1110. View

18.

El Mecky J, Johansson L, Plantinga M, Fenwick A, Lucassen A, Dijkhuizen T . Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists. BMC Med Genomics. 2019; 12(1):170. PMC: 6883538. DOI: 10.1186/s12920-019-0612-6. View

19.

Kilpivaara O, Aaltonen L . Diagnostic cancer genome sequencing and the contribution of germline variants. Science. 2013; 339(6127):1559-62. DOI: 10.1126/science.1233899. View

20.

Mighton C, Clausen M, Sebastian A, Muir S, Shickh S, Baxter N . Patient and public preferences for being recontacted with updated genomic results: a mixed methods study. Hum Genet. 2021; 140(12):1695-1708. DOI: 10.1007/s00439-021-02366-0. View