Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes
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 a...
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ftmemorialuniv:oai:research.library.mun.ca:9637 2023-10-01T03:57:35+02:00 Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes Green, Jane Stuart 1995 application/pdf https://research.library.mun.ca/9637/ https://research.library.mun.ca/9637/1/Green_JaneStuart.pdf en eng Memorial University of Newfoundland https://research.library.mun.ca/9637/1/Green_JaneStuart.pdf Green, Jane Stuart <https://research.library.mun.ca/view/creator_az/Green=3AJane_Stuart=3A=3A.html> (1995) Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes. Doctoral (PhD) thesis, Memorial University of Newfoundland. thesis_license Thesis NonPeerReviewed 1995 ftmemorialuniv 2023-09-03T06:47:31Z 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 ... Thesis Newfoundland Memorial University of Newfoundland: Research Repository Huntington ENVELOPE(-127.078,-127.078,54.707,54.707) |
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Memorial University of Newfoundland: Research Repository |
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ftmemorialuniv |
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English |
description |
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 ... |
format |
Thesis |
author |
Green, Jane Stuart |
spellingShingle |
Green, Jane Stuart Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
author_facet |
Green, Jane Stuart |
author_sort |
Green, Jane Stuart |
title |
Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
title_short |
Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
title_full |
Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
title_fullStr |
Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
title_full_unstemmed |
Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
title_sort |
development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes |
publisher |
Memorial University of Newfoundland |
publishDate |
1995 |
url |
https://research.library.mun.ca/9637/ https://research.library.mun.ca/9637/1/Green_JaneStuart.pdf |
long_lat |
ENVELOPE(-127.078,-127.078,54.707,54.707) |
geographic |
Huntington |
geographic_facet |
Huntington |
genre |
Newfoundland |
genre_facet |
Newfoundland |
op_relation |
https://research.library.mun.ca/9637/1/Green_JaneStuart.pdf Green, Jane Stuart <https://research.library.mun.ca/view/creator_az/Green=3AJane_Stuart=3A=3A.html> (1995) Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes. Doctoral (PhD) thesis, Memorial University of Newfoundland. |
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_version_ |
1778529261880082432 |