Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes

• Main Author: Green, Jane Stuart
• Format: Thesis
• Language: English
• Published: Memorial University of Newfoundland 1995
• Subjects: Huntington; Newfoundland
• Online Access: https://research.library.mun.ca/9637/; https://research.library.mun.ca/9637/1/Green_JaneStuart.pdf

Families with an autosomal dominant predisposition to benign or malignant tumours were identified in Newfoundland in the 1980s, including families with von Hippel-Lindau disease (VHL), the multiple endocrine neoplasias, type 1 (MEN-1), and type 2 (MEN-2), and the hereditary colon cancers, familial adenomatous polyposis (FAP), and hereditary non-polyposis colon cancer (HNPCC). Each family was identified because of an excess of early deaths and disabilities in family members who had presented with symptomatic disease, and an increased anxiety in affected and unaffected family members. -- The medical team recognized that a multidisciplinary approach to the disease in each family was necessary to improve the prognosis, and that a screening program might be central to this type of care. -- Successful genetic screening programs had been developed since the 1960s for severe or lethal hereditary diseases with neonatal or early childhood onset: for early identification and treatment of affected infants, or for identification of those at risk of having an affected child with provision of counselling to allow informed reproductive decisions. Subsequently predictive testing for incurable late-onset diseases, such as Huntington disease, was introduced to reduce uncertainty. Many lessons were learned from these early screening programs, about the ethical requirements of screening for hereditary disease, and the need for coordination with pre-screening and post-screening education, counselling, and follow-up. -- In the 1980s there were recommendations for screening programs for hereditary tumour syndromes, for early identification of gene carriers to provide reproductive counselling, and for early identification and treatment of tumours to improve the prognosis. At the same time there were concerns that more harm than good might result from this type of program. The large Newfoundland families with VHL, MEN-1, MEN-2, FAP and HNPCC provided an opportunity to develop, implement, and then evaluate clinical and genetic screening ...