Actionability and scope should determine the extent of counselling for presymptomatic genetic testing

Bettina Zimmermann; Georg Starke; David Shaw; Bernice Elger; Insa Koné

doi:10.4414/smw.2020.20274

Viewpoint

Vol. 150 No. 2728 (2020)

Actionability and scope should determine the extent of counselling for presymptomatic genetic testing

Bettina Zimmermann⁺⁻
Georg Starke⁺⁻
David Shaw⁺⁻
Bernice Elger⁺⁻
Insa Koné⁺⁻

Cite this as:: Swiss Med Wkly. 2020;150:w20274
Published: 29.06.2020

References

Rössler F, Lemke JR. Legislation on Genetic Testing in Different Countries. In: Kiess W, Bornehag C-G, Gennings C, editors. Pediatric Epidemiology. Pediatric and Adolescent Medicine. Basel: Karger; 2017. p. 30–40.
Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, Caughey AB, et al.; US Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652–65. doi:.https://doi.org/10.1001/jama.2019.10987
Skirton H, Goldsmith L, Jackson L, Tibben A. Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet. 2013;21(3):256–60. doi:.https://doi.org/10.1038/ejhg.2012.174
Garrison NA, Brothers KB, Goldenberg AJ, Lynch JA. Genomic Contextualism: Shifting the Rhetoric of Genetic Exceptionalism. Am J Bioeth. 2019;19(1):51–63. doi:.https://doi.org/10.1080/15265161.2018.1544304
Meigs JB, Cupples LA, Wilson PW. Parental transmission of type 2 diabetes: the Framingham Offspring Study. Diabetes. 2000;49(12):2201–7. doi:.https://doi.org/10.2337/diabetes.49.12.2201
Singletary SE. Rating the risk factors for breast cancer. Ann Surg. 2003;237(4):474–82. doi:.https://doi.org/10.1097/01.SLA.0000059969.64262.87
Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30. doi:.https://doi.org/10.1086/375033
Ligthart S, van Herpt TTW, Leening MJG, Kavousi M, Hofman A, Stricker BHC, et al. Lifetime risk of developing impaired glucose metabolism and eventual progression from prediabetes to type 2 diabetes: a prospective cohort study. Lancet Diabetes Endocrinol. 2016;4(1):44–51. doi:.https://doi.org/10.1016/S2213-8587(15)00362-9
Guttmacher AE, Collins FS, Carmona RH. The family history--more important than ever. N Engl J Med. 2004;351(22):2333–6. doi:.https://doi.org/10.1056/NEJMsb042979
Brock D. Ethical Issues in the Use of Cost Effectiveness Analysis for the Prioritization of Health Resources. In: Khushf G, editor. Handbook of Bioethics. Philosophy and Medicine. Dordrecht: Kluwer Academic Publishers; 2004. p. 353–80.

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Actionability and scope should determine the extent of counselling for presymptomatic genetic testing. Swiss Med Wkly [Internet]. 2020 Jun. 29 [cited 2025 Oct. 15];150(2728):w20274. Available from: https://www.smw.ch/index.php/smw/article/view/2821

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DOI:: https://doi.org/10.4414/smw.2020.20274

[1] Rössler F, Lemke JR. Legislation on Genetic Testing in Different Countries. In: Kiess W, Bornehag C-G, Gennings C, editors. Pediatric Epidemiology. Pediatric and Adolescent Medicine. Basel: Karger; 2017. p. 30–40.

[2] Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, Caughey AB, et al.; US Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652–65. doi:.https://doi.org/10.1001/jama.2019.10987

[3] Skirton H, Goldsmith L, Jackson L, Tibben A. Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet. 2013;21(3):256–60. doi:.https://doi.org/10.1038/ejhg.2012.174

[4] Garrison NA, Brothers KB, Goldenberg AJ, Lynch JA. Genomic Contextualism: Shifting the Rhetoric of Genetic Exceptionalism. Am J Bioeth. 2019;19(1):51–63. doi:.https://doi.org/10.1080/15265161.2018.1544304

[5] Meigs JB, Cupples LA, Wilson PW. Parental transmission of type 2 diabetes: the Framingham Offspring Study. Diabetes. 2000;49(12):2201–7. doi:.https://doi.org/10.2337/diabetes.49.12.2201

[6] Singletary SE. Rating the risk factors for breast cancer. Ann Surg. 2003;237(4):474–82. doi:.https://doi.org/10.1097/01.SLA.0000059969.64262.87

[7] Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30. doi:.https://doi.org/10.1086/375033

[8] Ligthart S, van Herpt TTW, Leening MJG, Kavousi M, Hofman A, Stricker BHC, et al. Lifetime risk of developing impaired glucose metabolism and eventual progression from prediabetes to type 2 diabetes: a prospective cohort study. Lancet Diabetes Endocrinol. 2016;4(1):44–51. doi:.https://doi.org/10.1016/S2213-8587(15)00362-9

[9] Guttmacher AE, Collins FS, Carmona RH. The family history--more important than ever. N Engl J Med. 2004;351(22):2333–6. doi:.https://doi.org/10.1056/NEJMsb042979

[10] Brock D. Ethical Issues in the Use of Cost Effectiveness Analysis for the Prioritization of Health Resources. In: Khushf G, editor. Handbook of Bioethics. Philosophy and Medicine. Dordrecht: Kluwer Academic Publishers; 2004. p. 353–80.