Literature DB >> 26004130

Timing and context: important considerations in the return of genetic results to research participants.

Kate A McBride1,2, Nina Hallowell3, Martin H N Tattersall4, Judy Kirk5, Mandy L Ballinger6,7, David M Thomas8, Gillian Mitchell7,9, Mary-Anne Young9.   

Abstract

General consensus exists that clinically significant germline genetic research results should be fed back to research participants. A body of literature is emerging about Australian research participants' experiences of feedback of genetic research results and factors that influence a participant's actions after receiving such information. This exploratory qualitative study conducted interviews with 11 participants from the International Sarcoma Kindred Study, four probands and seven of their relatives. They had been informed by letter of the availability of clinically significant germline TP53 mutations identified through research. We examined the participants' views about the feedback of these genetic test results. Thematic (inductive) analysis was used to analyse the data. A number of factors influenced participants' responses following notification. This included participants' understanding of the notification letter and their perception of the relevance of the information for them and/or their family. Most notably, timing of the letter in the context of an individual's current life experiences was important. Timing and context are novel factors identified that may impact on research participants' understanding or their ability to access clinically significant research results. We outline strategies for disseminating results to research participants and their next of kin that may reduce their uncertainty around the receipt of research results.

Entities:  

Keywords:  Feedback; Genetics; Li-Fraumeni; Research results; Results disclosure; Sarcoma

Year:  2015        PMID: 26004130      PMCID: PMC4715816          DOI: 10.1007/s12687-015-0231-7

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  58 in total

Review 1.  Disclosure of individual genetic data to research participants: the debate reconsidered.

Authors:  Annelien L Bredenoord; Hester Y Kroes; Edwin Cuppen; Michael Parker; Johannes J M van Delden
Journal:  Trends Genet       Date:  2010-12-27       Impact factor: 11.639

2.  Public expectations for return of results--time to stop being paternalistic?

Authors:  Conrad Fernandez
Journal:  Am J Bioeth       Date:  2008-11       Impact factor: 11.229

Review 3.  From patients to partners: participant-centric initiatives in biomedical research.

Authors:  Jane Kaye; Liam Curren; Nick Anderson; Kelly Edwards; Stephanie M Fullerton; Nadja Kanellopoulou; David Lund; Daniel G MacArthur; Deborah Mascalzoni; James Shepherd; Patrick L Taylor; Sharon F Terry; Stefan F Winter
Journal:  Nat Rev Genet       Date:  2012-04-03       Impact factor: 53.242

4.  Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing.

Authors:  Jeffrey R Botkin; Ken R Smith; Robert T Croyle; Bonnie J Baty; Jean E Wylie; Debra Dutson; Anna Chan; Heidi A Hamann; Caryn Lerman; Jamie McDonald; Vickie Venne; John H Ward; Elaine Lyon
Journal:  Am J Med Genet A       Date:  2003-04-30       Impact factor: 2.802

5.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

Authors:  Anita Villani; Uri Tabori; Joshua Schiffman; Adam Shlien; Joseph Beyene; Harriet Druker; Ana Novokmet; Jonathan Finlay; David Malkin
Journal:  Lancet Oncol       Date:  2011-05-19       Impact factor: 41.316

6.  Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

Authors:  Shih-Jen Hwang; Guillermina Lozano; Christopher I Amos; Louise C Strong
Journal:  Am J Hum Genet       Date:  2003-02-27       Impact factor: 11.025

Review 7.  Li-Fraumeni syndrome--a molecular and clinical review.

Authors:  J M Varley; D G Evans; J M Birch
Journal:  Br J Cancer       Date:  1997       Impact factor: 7.640

8.  Incidental findings in genetics research using archived DNA.

Authors:  Ellen Wright Clayton
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

9.  Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.

Authors:  A C Sexton; M Sahhar; D R Thorburn; S A Metcalfe
Journal:  J Genet Couns       Date:  2008-02-12       Impact factor: 2.537

10.  The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research.

Authors:  Mary-Anne Young; Amy Herlihy; Gillian Mitchell; David M Thomas; Mandy Ballinger; Kathy Tucker; Craig R Lewis; Susan Neuhaus; Jane Halliday
Journal:  Clin Sarcoma Res       Date:  2013-07-30
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  5 in total

1.  Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk.

Authors:  Amanda M Willis; Sian K Smith; Bettina Meiser; Mandy L Ballinger; David M Thomas; Martin Tattersall; Mary-Anne Young
Journal:  J Genet Couns       Date:  2018-02-17       Impact factor: 2.537

2.  "I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.

Authors:  M Vornanen; K Aktan-Collan; N Hallowell; H Konttinen; H Kääriäinen; A Haukkala
Journal:  J Community Genet       Date:  2018-01-16

3.  My Research Results: a program to facilitate return of clinically actionable genomic research findings.

Authors:  Amanda M Willis; Bronwyn Terrill; Angela Pearce; Alison McEwen; Mandy L Ballinger; Mary-Anne Young
Journal:  Eur J Hum Genet       Date:  2021-10-04       Impact factor: 4.246

4.  Research participant interest in primary, secondary, and incidental genomic findings.

Authors:  Jennifer T Loud; Renee C Bremer; Phuong L Mai; June A Peters; Neelam Giri; Douglas R Stewart; Mark H Greene; Blanche P Alter; Sharon A Savage
Journal:  Genet Med       Date:  2016-04-21       Impact factor: 8.822

5.  "We need a one-stop-shop": co-creating the model of care for a multidisciplinary memory clinic with community members, GPs, aged care workers, service providers, and policy-makers.

Authors:  Genevieve Z Steiner; Carolyn Ee; Shamieka Dubois; Freya MacMillan; Emma S George; Kate A McBride; Diana Karamacoska; Keith McDonald; Anne Harley; Gamze Abramov; Elana R Andrews-Marney; Adele E Cave; Mark I Hohenberg
Journal:  BMC Geriatr       Date:  2020-02-11       Impact factor: 3.921

  5 in total

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