The need to develop an evidence base for genetic counselling in Europe

McAllister, Marion; Moldovan, Ramona; Paneque, Milena; Skirton, Heather

doi:10.1038/ejhg.2015.134

Cited by 19 publications

(19 citation statements)

References 8 publications

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“…To date, most of the research investigating the experiences of individuals participating in diagnostic BRCA1/2 testing has focused on English-speaking or Northern-European populations, and very little is known about the experiences and needs of patients and families from Southern Europe (Godino, Jackson, Turchetti, Hennessy, & Skirton, 2018). However, culture plays a significant role in shaping the values, beliefs, behaviours and practices of both counsellors and counselees, and in shaping service models (Etchegary, Potter, Perrier, & Wilson, 2013;McAllister, Moldovan, Paneque, & Skirton, 2016). In order to contribute to closing this knowledge gap, we conducted in-depth interviews with Italian women and explored their experiences of BRCA1/2 counselling and testing.…”

Section: Introductionmentioning

confidence: 99%

A qualitative study on decision‐making about BRCA1/2 testing in Italian women

et al. 2019

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Objective: In the era of cancer panel testing, new models of genetic counselling providing effective decision-making support are needed. As little is known about Southern European patients' and families' needs and experiences in this regard, we explored Italian women's experiences of clinical BRCA1/2 counselling and testing. Methods:We interviewed 19 Italian women with a strong family history but no personal history of cancer who had had clinical BRCA1/2 testing. Interviews were recorded and transcribed, and qualitative data were organised into themes. Results:Most respondents had decided to pursue testing before pre-test counselling. Although half the sample reported having reached the decision without thinking through its implications, most participants qualified their choice as unequivocally "the right one." Conclusion:A subset of Italian women may arrive at their first cancer genetic consultation having already made a firm decision about testing. To empower women's decision-making, new models of cancer genetic counselling could usefully take into account differences in how they approach the testing process. This includes understanding decision-making from different cultural perspectives. In familistic countries like Italy, for example, decisional support may involve exploring widely shared assumptions regarding responsibilities towards family members and the prioritisation of family over self. K E Y W O R D S BRCA1/2,

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Section: Introductionmentioning

confidence: 99%

A qualitative study on decision‐making about BRCA1/2 testing in Italian women

et al. 2019

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“…In accordance with this practice standard, genetic counseling graduate programs are producing increasingly rigorous research studies. In parallel, senior genetic counselors have acknowledged the critical need for evidence‐based practice (Baty & Biesecker, ; McAllister et al, ). In 2006, the American Journal of Medical Genetics Part C published a special issue titled, “Toward Evidence‐Based Genetic Counseling” that included studies where genetic counselors took the lead in assessing: patient perceptions of uncertainty among parents of children with rare disorders, and adults undergoing BRCA1 testing; patient readiness to change based on cancer risk; and directions for future research (Baty & Biesecker, ).…”

Section: Introductionmentioning

confidence: 99%

Genetic counselors as social and behavioral scientists in the era of precision medicine

Biesecker

2018

American J of Med Genetics Pt C

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In the era of precision medicine, translating genomics into clinical care will involve answering key questions in social and behavioral research. The scope of this research addresses assessing how clients perceive and use genomic information, and how effectively genetic counseling is meeting clients' needs. Outcomes are central to enhancing practice effectiveness, improving patient outcomes, and informing cost effective services to address workforce challenges. While genetic counseling is generally thought of as a clinical practice, genetic counselors contribute to research in several ways. Counselors are actively involved in interpretation of sequence data, collaborate in clinical research teams, and serve as lead investigators. This commentary highlights genetic counselors as social and behavioral scientists and reviews evidence generated by genetic counselors, describes advanced training in research, and posits key social and behavioral research questions for genetic counseling in translating genomic science in the era of precision medicine.

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“…12 Este cenário não é exclusivo do nosso país. 14 De modo geral, as ferramentas disponíveis para a avaliação da qualidade do aconselhamento genético são reduzidas ou pouco divulgadas internacionalmente [15][16][17][18][19] sendo os métodos mais utilizados focados nos possíveis efeitos do aconselhamento 20 e não nas componentes do processo que garantem a sua eficácia e a sua utilidade para os pacientes. 16,21 Das poucas escalas que têm sido desenvolvidas no âmbito do aconselhamento genético é ainda de realçar o facto de todas serem focadas em áreas muito específicas do mesmo e nenhuma delas ter sido ainda adaptada ao contexto português.…”

Section: Introductionunclassified