The growing needs of genetic counselling-Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong.

The need for the expansion of genomic services has been at a record time high in the past decade. As technological advancement continues to strengthen the entire genetic and genomic pipeline and clinical operational workflow, the major challenge remains to be the speed of workforce development to meet service growth. In particular, the international expansion of genetic counselling (GC) services has been a topic of interest for the past few years. GC is an emerging profession in most of Asia, and in many countries the profession of GC often refers to physicians or front-line health workers with expertise in genetics to provide GC services rather than being a specific independent profession. As genetic and genomic services, especially pre-test and post-test GC, expand globally, the need to tackle the longstanding obstacles of GC personnel shortage and funding issues must not be overlooked. There is an urgent need internationally, and especially in Asia, where GC profession is comparatively less well-established, to seek alternative approaches to meet service demand. The present review examines the global development and feasibility of tele-genetics and tele-genetic counselling (TGC), and serves as the foundation to explore a possible roadmap in Hong Kong via the Hong Kong Genome Project.

Rare disease emerging as a global public health priority.

The genomics revolution over the past three decades has led to great strides in rare disease (RD) research, which presents a major shift in global policy landscape. While RDs are individually rare, there are common challenges and unmet medical and social needs experienced by the RD population globally. The various disabilities arising from RDs as well as diagnostic and treatment uncertainty were demonstrated to have detrimental influence on the health, psychosocial, and economic aspects of RD families. Despite the collective large number of patients and families affected by RDs internationally, the general lack of public awareness and expertise constraints have neglected and marginalized the RD population in health systems and in health- and social-care policies. The current Coronavirus Disease of 2019 (COVID-19) pandemic has exposed the long-standing and fundamental challenges of the RD population, and has reminded us of the critical need of addressing the systemic inequalities and widespread disparities across populations and jurisdictions. Owing to the commonality in goals between RD movements and universal health coverage targets, the United Nations (UN) has highlighted the importance of recognizing RDs in policies, and has recently adopted the UN Resolution to promote greater integration of RDs in the UN agenda, advancing UN's commitment in achieving the 2030 Sustainable Development Goals of "leav[ing] no one behind." Governments have also started to launch Genome Projects in their respective jurisdictions, aiming to integrate genomic medicine into mainstream healthcare. In this paper, we review the challenges experienced by the RD population, the establishment and adoption of RD policies, and the state of evidence in addressing these challenges from a global perspective. The Hong Kong Genome Project was illustrated as a case study to highlight the role of Genome Projects in enhancing clinical application of genomic medicine for personalized medicine and in improving equity of access and return in global genomics. Through reviewing what has been achieved to date, this paper will provide future directions as RD emerges as a global public health priority, in hopes of moving a step toward a more equitable and inclusive community for the RD population in times of pandemics and beyond.

Baseline knowledge and receptiveness to genetic testing for hereditary breast and ovarian cancer syndromes in Chinese high-risk females.

Limited studies have examined the pre-counselling knowledge and attitudes of high-risk women on hereditary breast and ovarian cancer (HBOC) syndromes genetic screening in Asia Pacific regions, particularly among Chinese. After controlling cost, an intrinsic barrier to undertake such screening, comprehensive understanding of the baseline characteristics of this cohort towards HBOC genetic counselling and testing service (GT) could be sought. This study aimed at exploring the baseline knowledge, possible motivators, barriers, and decisional factors of undertaking such service. One hundred and forty-two Southern Hong Kong Chinese high-risk females (89.4% with cancer history; 10.6% were cancer-free at-risk family members) completed a questionnaire right before their pre-testing GT. Results showed that perceived benefits to self and family members with reference to cancer prevention are important decisional motivators. A sponsored cancer genetic testing service in this cohort was crucial as 71.3% would not have opted for self-financed screening. Pre-testing and post-testing counselling were essential, particularly for older and less educated high-risk individuals. More importantly, after thorough pre-counselling with Q&A session, the entire cohort in this study gave written consent to undertake GT. Moreover, those proven to be germline pathogenic variant carriers were willing to share the information with family members and successfully persuaded them to pursue GT.

Attitudes and compliance of clinical management after genetic testing for hereditary breast and ovarian cancer among high-risk Southern Chinese females with breast cancer history.

Western studies have shown that the uptake rates of surveillance and prophylaxis may vary among BRCA mutation carriers between ethnicities. The present study is the first to investigate the behavioural impact and subjective attitudes in Southern Chinese high-risk families who had undergone BRCA1 and BRCA2 genetic testing up to 2.5 years post-testing. Individuals who had such genetic testing and have consented to participate in the prospective database of Hong Kong Hereditary Breast Cancer Family Registry were recruited and surveyed by a face-to-face or telephone interview. Sociodemographic information, genetic test results, pre- and post-testing surveillance, medical regimes, and attitudes towards the choice of clinical management were obtained by interviews and retrieval of medical records using this prospective database. 69 females with breast cancer history were recruited into the study. Twenty-nine female carriers (15 BRCA1 mutated gene-carriers and 14 BRCA2 mutated gene-carriers) and 40 non-carriers of a BRCA 1/2 mutations were interviewed. The uptake rate of high risk breast screening i.e. clinical breast examination, mammography, and breast MRI is significantly higher among female carriers (48.3 %) after knowing genetic testing results than before (p < 0.01). A strong significant relationship between any increase or decrease of ovarian ultrasound screening (OS) and genetic status is found (p < .001), with more females did OS and with a higher frequency after knowing genetic testing results among both carriers (22.7 % â†’ 86.4 %) and non-carriers (37.5 % â†’ 50.0 %). Among carriers, very few opted for prophylactic surgeries. The present cohort might see prophylaxis as last resort and would use traditional Chinese medicine in cancer risk management.

Experience of Southern Chinese: new challenges in treating young female breast cancer patients at child-bearing age--a call for multi-disciplinary collaboration.

Compared with western populations, Southern Chinese, especially those residing in Hong Kong, are experiencing increasing breast cancer incidence and also a younger onset of breast cancer. Combating this problem and treating young women with breast cancer poses specific challenges and complicated considerations. With reference to the postponement in the age of marriage and reproduction in modern societies, the issue of fertility after breast cancer, especially for high-risk young patients, is one significant quality of life concern that cannot be underestimated as a secondary medical topic. While the issue has its significance and is confronting front-line breast cancer care teams of different disciplines, related research is mostly on Caucasians. In cultures where the traditional expectation on women for child-bearing is still prominent, young breast cancer patients may endure significant distress over fertility options after breast cancer. There is a lack of related data on Asian breast cancer survivors at child-bearing age, which calls for a pressing need to encourage qualitative groundwork, case reports, and cohort experiences in hope for providing insight and arouse research interest. In order to provide a long-term comprehensive multidisciplinary management service with encouragement to encompass prospects for a positive future among young breast cancer survivors, relevant disciplines need to collaborate and work efficaciously together both on clinical and research aspects of cancer-related fertility issues.

Hope-based intervention for individuals susceptible to colorectal cancer: a pilot study.

Individuals undergoing genetic testing for hereditary colorectal cancer (HCRC) are prone to develop psychological problems. This study investigated the short-term efficacy of a hope-based intervention program in increasing hope levels and decreasing psychopathology among HCRC genetic testing recipients. A longitudinal study was carried out on HCRC genetic testing recipients recruited by the Hereditary Gastrointestinal Cancer Registry. Participants joined a hope-based intervention program consisting of six sessions of weekly closed group therapy. Psychological questionnaires were administered immediately before the first and after the last sessions of the program measuring hope, anxiety and depression levels of the participants. There were 22 participants (7 men and 15 women) at a mean age of 49.4 ± 9.6 years. Women tended to have higher level of anxiety than men at pre-intervention. Paired sample t tests were conducted. Hope levels increased significantly from pre- to post-intervention (pre-total hope score = 5.56; post-total hope score = 6.07; t(1) = -0.281, p < 0.05). Anxiety level also decreased significantly from pre- to post-intervention (pre-anxiety score = 7.38; post-anxiety score = 5.90; t (1) = 2.35, p < 0.05). Our findings imply that hope-based intervention program would be effective in enhancing hope in HCRC genetic testing recipients. The program may also be more effective in alleviating anxiety than depression in these individuals.