Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding ... View Full Text


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Article Info

DATE

2021-08-20

AUTHORS

Lea Godino, Daniela Turchetti, Leigh Jackson, Catherine Hennessy, Heather Skirton

ABSTRACT

Undertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18–30 years) undergo presymptomatic genetic testing for inherited cancer syndromes. The model evolved from synthesis of results of a sequential mixed methods study involving a systematic review, a qualitative study and a quantitative study. The resulting model shows that young adults at risk of inherited cancer syndromes are influenced by others to have testing and come to counselling with their decision already made. However, genetic counselling enhances their feelings of autonomy and integration of their genetic status into their lives. Our theoretical model could be a valid support during the genetic counselling process for young adults and their parents, as it may sensitise professionals to the specific needs of this population, including education and support to autonomous decision-making. Counselling approaches should be modified in this population: an inclusive, multi-step counselling process is needed, with timing and setting set according to the specific features of this sensitive population. More... »

PAGES

685-691

References to SciGraph publications

  • 2017-11-21. Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-08-15. Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-04-22. Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors in JOURNAL OF GENETIC COUNSELING
  • 2017-06-22. Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies in JOURNAL OF GENETIC COUNSELING
  • 2018-10-04. Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-08-26. Finding common ground: how the development of theory in public health research can bring us together in SOCIAL THEORY & HEALTH
  • 2018-05-30. The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice in FAMILIAL CANCER
  • 2020-03-24. Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs) in CURRENT GENETIC MEDICINE REPORTS
  • 2015-07-15. Impact of presymptomatic genetic testing on young adults: a systematic review in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-07-17. Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer in EUROPEAN JOURNAL OF HUMAN GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s12687-021-00548-x

    DOI

    http://dx.doi.org/10.1007/s12687-021-00548-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1140550516

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34415557


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