Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study

Abstract

Genetic counseling (GC) and genetic testing are vital risk management strategies in hereditary breast and ovarian cancer (HBOC) syndromes. Hitherto, cancer genetic testing amongst Asians has been described only in developed and high-income Asian countries. We studied the uptake and acceptance of GC and genetic testing services to Asian BRCA carriers in a middle-income country. A total of 363 patients were tested by full sequencing and large rearrangement analysis of both BRCA1 and BRCA2 genes in the Malaysian Breast Cancer (MyBrCa) Genetic Study. Of these, 49 index patients (13.5%) were found to carry deleterious mutations. GC pre- and post- result disclosures were provided and these groups of patients and their families were studied. GC and genetic testing were accepted by 82% of Malaysian patients at high risk for HBOC syndromes. However, risk assessment was limited by large, geographically dispersed, often polygamous or polyandrous families, and the lack of complete cancer registry. Cultural taboos about cancer diagnoses, social marginalization and lack of regulatory control of genetic discrimination were significant concerns. Only 78% of index patients informed their families of their risks and 11% of relatives came forward when offered free counseling and testing. Even when GC and genetic testing are provided at no cost, there remain significant societal and regulatory barriers to effective cancer genetic services in this underserved Asian population. Families believe there is a need for regulatory protection against genetic discrimination. Further studies are needed in the area of increasing awareness about the potential benefits of GC and genetic testing in Asians.

Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

“…A variety of cost and logistical barriers were endorsed or stated across 15 studies. The financial cost of genetic testing and concerns around future insurability or financial discrimination were often reported (17,24,25,31,37,44,46). The time and travel required to attend an appointment were also stated as barriers (24,28,29,31,33,37,45,47).…”

Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients

“…Clinical genetics services are relatively new and underdeveloped and, moreover, our data and data from Asian Americans have shown that risk assessment models for BRCA1 and BRCA2 , which were largely built on families with multiple cancers, underestimate the number of BRCA carriers in Asians compared to Caucasians [12,13]. We have previously found that family history is poorly reported in Asian families in Malaysia, in part due to the stigma associated with cancer in Asian families, significant geographical dispersal of families and the lack of robust cancer registries [12,14]. There is currently no data in any Asian cohort to determine whether this underestimation of number of carrier families also applies to other genes.…”

Social and Communicative Functions of Informed Consent Forms in East Asia and Beyond

“…First, while many research participants are afraid of the risks of genetic discrimination through participation in genetics research (Hamvas et al, 2004), most East Asian countries do not have legal safeguards against genetic discrimination (Joly et al, 2010; Yoon et al, 2011; Otlowski et al, 2012). However, as in the case of a Japanese genetic cohort study (Matsui et al, 2008), most research participants may wish to have future disclosure of individual risks.…”