Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia

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ORIGINAL ARTICLE

Is family history still underutilised? Exploring the views and experiences of primary care doctors in Malaysia Norita Hussein 1

&

Tun Firzara Abdul Malik 1 & Hani Salim 2 & Azah Samad 3 & Nadeem Qureshi 4 & Chirk Jenn Ng 1

Received: 2 March 2020 / Accepted: 8 July 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020

Abstract Family history has long been recognised as a non-invasive and inexpensive tool to identify individuals at risk of genetic conditions. Even in the era of evolving genetic and genomic technology, the role of family history in predicting individual risk for genetic testing and guiding in preventive interventions is still relevant, especially in low-resource countries. The aim of this study was to explore primary care doctors’ views and experiences in family history taking and how they utilised family history in day-to-day clinical consultations in Malaysia. Four focus group discussions and six in-depth interviews involving 25 primary care doctors were conducted. Three themes emerged from the analysis: (1) primary care doctors considered family history as an important part of clinical assessment, (2) proactive versus reactive approach in collecting family history and (3) family history collection was variable and challenging. Family history was documented in either free text or pedigree depending on the perception of its appropriateness during the consultation. This study highlighted the need to improve the approach, documentation and the implementation of family history in the Malaysian primary care settings. Integrating family filing concept with builtin clinical decision support into electronic medical records is a potential solution in ensuring effective family history taking in primary care. Keywords Family history . Risk assessment . Primary care . Qualitative

Introduction Genetic and genomic advances are expanding and being mainstreamed into clinical practice. Primary care doctors are increasingly exposed to these advances in clinical consultations, from the recognition of genetic carrier status, identification of familial cancer risk to modifying drug management in response to genomic advances. Primary care doctors, often the

* Norita Hussein [email protected] 1

Department of Primary Care Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

2

Department of Family Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Seri Kembangan, Selangor, Malaysia

3

Section 7 Health Clinic, Ministry of Health, Shah Alam, Selangor, Malaysia

4

Division of Primary Care, School of Medicine, University of Nottingham, Nottingham NG7 2RD, UK

first point of healthcare contact, offer a unique opportunity to initiate genetic assessment, provide appropriate support and counselling and refer to specialists when appropriate; this allows timely risk mitigation intervention to be instituted (Qureshi and Raeburn 1993). Although genetic and genomic technology has evolved rapidly in the past decade, family history assessment still