ABSTRACT
Historically, genetic counselling was developed in the West and in the field of neonatal medicine, and a non-directive approach has been its central ethos since the 1950s to 60s. In today’s changing world, the question of whether non-directive genetic counselling with its emphasis on patient autonomy may in some occasions be perceived as unprofessional practice. Through these 4 case studies in cancer genetic counselling, we seek to highlight the conundrums, dilemmas and various other considerations of patients and their families faced during the genetic counselling process. We also address the pitfalls of a ‘one-size fits all’ approach of non-directive counselling and how we could best practice cancer genetic counselling in the Singapore context, taking into consideration respect for patient autonomy and healthcare professionalism.
About 5% to 15% of all cancers are hereditary and due to germline mutations in cancer predisposition genes. With the human genome project and its impact on molecular medicine today, we are now able to clone key cancer predisposition genes and better characterise major hereditary cancer syndromes. This has led to the development of cancer genetics as a subspecialty in the field of oncology. Genetic testing for common hereditary cancer syndromes such as hereditary breast and ovarian cancer due to the BRCA1/2 genes, Lynch syndrome due to mutations in the mismatch repair genes and familial adenomatous polyposis due to mutations in the APC gene are now clinically available in commercial testing laboratories. With such specialised information made available as public information and healthcare service, genetic counselling programmes are being integrated in clinical care to provide assessment and management of high-risk cancer families. A non-directive approach has been the central ethos to genetic counselling since the 1950s and 1960s.
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