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A Qualitative Evaluation of the Psychosocial Impact of Family History Screening in Australian Primary Care

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Journal of Genetic Counseling


Whilst the family history is perceived as a routine part of the medical family history it is not used in a systematic way to tailor disease prevention in primary care. Family history questionnaires (FHQs) may have an important role in primary care as a screening tool to support tailored disease prevention. The potential harms and benefits of family history screening in primary care require investigation before routine adoption. This study aimed: first to explore the experience and impact of family history collection via a novel family history questionnaire and subsequent familial risk assessment, and secondly, to assess the acceptability and feasibility of using the questionnaire in Australian primary care. Twenty-eight semi-structured telephone interviews were conducted with patients already enrolled in a family history screening study through their family physician. Qualitative constant comparative analysis was undertaken of transcript data. Common themes included the way in which the family unit, individual stage of life and a number of external triggers interact and contribute to how an individual comes to terms with familial disease risk. Unique findings emerged relating to the Australian perspective of participants. Living in Australia created a barrier to effective communication amongst family members about family health, and family history collection. In addition to the vast geographical distance both within Australia, and between Australia and other countries, there was an additional sense of isolation described within an historical context. The family history screening questionnaire was considered user-friendly and a worthwhile approach to supporting disease prevention in primary care, although some participants did not retain an accurate understanding of their familial cancer risk. In conclusion, a person’s response to family history screening is reliant on a complex interplay of family, personal and external factors, which in turn are driven by their stage of life. The impact of immigration and geographic isolation from family members may further complicate a person’s response to undertaking family history screening.

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Conflict of Interest

Author G Reid, FM Walter and J Emery declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Correspondence to Gabrielle T. Reid.

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Reid, G.T., Walter, F.M. & Emery, J.D. A Qualitative Evaluation of the Psychosocial Impact of Family History Screening in Australian Primary Care. J Genet Counsel 24, 312–324 (2015).

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