Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China

Abstract

Purpose The aim was to evaluate knowledge, attitudes, and clinical practice concerning medical genetics, genetic testing, and counseling among primary care physicians (PCPs) in Hong Kong and Shenzhen, China. Methods The University of Hong Kong (HKU), HKU‐Shenzhen Hospital, and Shenzhen Health Capacity Building and Continuing Education Center invited PCPs from Hong Kong and Shenzhen to participate in an online survey. Results The survey was completed by 151 PCPs and 258 PCPs from Hong Kong and Shenzhen, respectively. The majority agreed it was important to keep current with genetics (91%) and that personalized medicine was the future of healthcare (86%), yet only 10% reported that they had postgraduate training in genomic medicine. Seventeen percent of Hong Kong and 40% of Shenzhen's PCPs encountered genetic‐related cases in the past 6 months, and they identified insufficient knowledge, few training opportunities, and self‐rated low confidence in their skillsets as main barriers. Conclusions Our survey shows that Hong Kong and Shenzhen's PCPs are not yet fully utilizing potential benefits of genomic medicine in their clinical practice, which could be addressed with a combination of easily accessible educational resources, clear referral pathways and guidelines on genetic diseases, and cross‐specialty collaboration between healthcare systems and professional bodies.

Rare disease emerging as a global public health priority

“…According to the National Organization for Rare Disorders (NORD) survey 2019, almost half of the patients and carers identified limited medical specialization to be a major barrier to delays in RD diagnosis (127). Previous studies have shown that many primary care physicians profess low confidence in their skillsets in managing patients with genetic-related issues and in using genetic information to make clinical decisions (128)(129)(130)(131). Primary care physicians have identified lack of knowledge and training opportunities to be the major barriers to genomic medicine in primary care (128,131,132).…”

“…Previous studies have shown that many primary care physicians profess low confidence in their skillsets in managing patients with genetic-related issues and in using genetic information to make clinical decisions (128)(129)(130)(131). Primary care physicians have identified lack of knowledge and training opportunities to be the major barriers to genomic medicine in primary care (128,131,132). Emphasis on further education and training in genomic medicine among medical specialists should be prioritized in order to improve RD diagnosis and management.…”

General practitioners’ (GPs) experience, attitudes and needs on clinical genetic services: a systematic review

“…Of the 62 final articles included, 36 studies were quantitative studies,27–62 13 were qualitative studies,3 63–74 9 were randomised controlled trials75–83 and 4 were mixed-methods study70 84–86 (online supplemental table 5). The selected studies were conducted in USA (n=20), UK (n=19), Canada (n=11), Australia (n=6), Asia (n=4), New Zealand (n=1) and South Africa (n=1).…”

“…Out of the 11 studies, 7 studies found that GPs leaned towards having a minor role that focuses more on traditional genetic tasks of identifying, referring and providing psychological support rather than assessing and explaining genetic risks, benefits and limitations 28 31 38 51 56 60 86. Two studies found that less than 25% of the 1168 GPs surveyed were willing to discuss genetic testing,60 and 70% of the 271 GPs did not perceive ordering genetic tests or discussing about testing implications as part of their job scope 56.…”

“…GP’s uncertainty over their role in genetic testing was compounded by their lack of confidence and knowledge on genetic testing. Out of the 34 studies that reviewed GP’s knowledge and experience towards genetic testing, 7 articles shed light on the limited experience and encounters with genetic testing43 44 63 65 or genomic cases 28 43 58. Of the 63 GPs surveyed, 77.8% had no experience with referring patients 36…”