Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

SummaryThis paper reports the diffusion of knowledge of screening for a genetic disorder (Tay–Sachs disease) in two fairly well defined, urban, Jewish populations in the Baltimore and Washington metropolitan areas, and on some of the sociological variables which influence the diffusion. Differences between the two populations are shown.

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Population-based genetic screening

Current Opinion in Genetics & Development ◽

10.1016/0959-437x(91)80040-s ◽

1991 ◽

Vol 1 (1) ◽

pp. 48-53 ◽

Cited By ~ 17

Author(s):

Antonio Cao ◽

Maria Cristina Rosatelli ◽

Renzo Galanello

Keyword(s):

Genetic Screening ◽

Population Based

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Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Public Health Genomics ◽

10.1159/000517265 ◽

2021 ◽

pp. 1-8

Author(s):

Cassidy Brothers ◽

Holly Etchegary ◽

Fiona Curtis ◽

Charlene Simmonds ◽

Jim Houston ◽

...

Keyword(s):

Quality Of Life ◽

Psychological Distress ◽

Right Ventricular ◽

Genetic Screening ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Population Based ◽

Ventricular Cardiomyopathy ◽

Health Related Qol ◽

Health Related

Purpose: We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant TMEM43 p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy. This pilot study explored the acceptability among subjects to TMEM43 p.S358L population-based genetic screening (PBGS) in this Canadian province. Methods: A prospective cohort study assessed attitudes, psychological distress, and health-related quality of life (QOL) in unselected individuals who underwent genetic screening for the TMEM43 p.S358L variant. Participants (n = 73) were recruited via advertisements and completed 2 surveys at baseline, 6 months, and 1 year which measured health-related QOL (SF-36v2) and psychological distress (Impact of Events Scale). Results: No variant-positive carriers were identified. Of those screened through a telephone questionnaire, >95% felt positive about population-genetic screening for TMEM43 p.S358L, though 68% reported some degree of anxiety after seeing the advertisement. There were no significant changes in health-related QOL or psychological distress scores over the study period. Conclusion: Despite some initial anxiety, we show support for PBGS among research subjects who screened negative for the TMEM43 p.S358L variant in NL. These findings have implications for future PBGS programs in the province.

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Knowledge About and Attitudes Toward Genetic Screening Among High-School Students: The Tay-Sachs Experience

PEDIATRICS ◽

10.1542/peds.59.1.86 ◽

1977 ◽

Vol 59 (1) ◽

pp. 86-91 ◽

Cited By ~ 1

Author(s):

Carol L. Clow ◽

Charles R. Scriver

Keyword(s):

High School ◽

High School Students ◽

Genetic Screening ◽

Human Genetics ◽

Participation Rate ◽

School Students ◽

Public Issues ◽

Knowledge And Attitudes ◽

Tay Sachs Disease ◽

Jewish Students

High-school students (ages 15 to 18 years; No. = 930) taking biology in their curriculum were surveyed (the first survey), in the classroom, for their knowledge and attitudes about Tay-Sachs disease and other "public" issues in genetics. High-school students now constitute 38.9% of those screened for the Tay-Sachs gene in the Montreal program and the participation rate is 75% among eligible Jewish students. Knowledge and attitudes about the screening experience were also surveyed (the second survey) in a sample (No. = 120) containing equal numbers of carriers and noncarriers matched for sex and age. The response rate was 75% in the second survey. The first survey revealed that the level of knowledge about Tay-Sachs disease is high among students, only 28% percent of whom were Jewish. Students have a very positive attitude toward genetic screening in general. These findings are associated with an effort to expand the human genetics content in the biology curriculum. The second survey revealed a favorable attitude toward the screening experience and the self-knowledge obtained among screened students. The screening clinic in the schools, and literature provided by the screening authority, was an effective source of knowledge about the significance of Tay-Sachs heterozygosity. Carriers experienced initial anxiety; later attitudes were similar in carrier and noncarriers. Self-image was unchanged in 90% and diminished in 10% of carriers and enhanced in 10% of noncarriers. Heterozygous students perceive information about their genetic status as useful to themselves and 95% want to know the genotype of an intended spouse; 88.4% would marry a carrier and only 11.6% would "reconsider." These findings encourage us to emphasise high-school screening as the preferred program in our community and to offer it as an effective aid to the physician faced with increasing demands in medical genetics. It is also an effective model for teaching some genetics and human biology in the schools.

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Thyroid cancer and co-occurring RET mutations in Hirschsprung disease

Endocrine Related Cancer ◽

10.1530/erc-13-0082 ◽

2013 ◽

Vol 20 (4) ◽

pp. 595-602 ◽

Cited By ~ 14

Author(s):

Valtter B Virtanen ◽

Eero Pukkala ◽

Reetta Kivisaari ◽

Perttu P Salo ◽

Antti Koivusalo ◽

...

Keyword(s):

Thyroid Cancer ◽

Cancer Registry ◽

Genetic Screening ◽

Hirschsprung Disease ◽

Population Based ◽

Clinical Findings ◽

Nucleotide Polymorphisms ◽

Serum Calcitonin ◽

Tertiary Center ◽

Thyroid Malignancies

The objective of this study was to assess the occurrence of thyroid cancer and co-occurringRETmutations in a population-based cohort of adult Hirschsprung disease (HD) patients. All 156 patients operated for HD in a tertiary center during 1950–1986 were followed for thyroid malignancies up to 2010 through the nationwide Finnish Cancer Registry. Ninety-one individuals participated in clinical and genetic screening, which included serum calcitonin and thyroid ultrasound (US) with cytology. Exons 10, 11, 13, and 16 were sequenced in all, and all exons of RET in 43 of the subjects, including those with thyroid cancer,RETmutations, suspicious clinical findings, and familial or long-segment disease. Through the cancer registry, two cases (aged 35 and 37 years) of medullary thyroid cancer (MTC) were observed; the incidence for MTC was 340-fold (95% CI 52–1600) compared with average population. These individuals had C611R and C620R mutations in exon 10. One papillary thyroid cancer withoutRETmutations was detected by clinical screening. Four subjects (aged 31–50 years) with co-occurringRETmutations in exons 10 (C609R;n=1) and 13 (Y791F,n=3) had sporadic short-segment HD with normal thyroid US and serum calcitonin. Three novel mutations and five single-nucleotide polymorphisms were found outside exons 10 and 13 without associated signs of thyroid cancer. MTC-associatedRETmutations were restricted to exons 10 and 13 affecting ∼5% of unselected adults with HD. Clinical thyroid assessment did not improve accuracy of genetic screening, which should not be limited to patients with familial or long-segment disease.

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