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MeSH Review:

Genetic Services

Visser, A. et al., Martin, R.L. et al., Orzan, E. et al., Prasad, C. et al., Oakley, G.P., et al.

Orzan, Murgia, Polli, Martella, Mazza, Zacchello, Babighian, Martin, Goldblatt, Walpole, Griffith, Tudor-Edwards, Gray, Butler, Wilkinson, Turner, France, Bennett, Prasad, Johnson, Bonnefont, Dilling, Innes, Haworth, Beischel, Thuillier, Prip-Buus, Singal, Thompson, Prasad, Buist, Greenberg,

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Disease relevance of Genetic Services

Carrier screening for cystic fibrosis alone will have dramatic implications for genetic service provision as 4 to 5% of the UK population carry the CF gene [1].
A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was initiated in Cape Town in 1987 [2].

High impact information on Genetic Services

A micro costing of NHS cancer genetic services [3].
We believe our newborn screening program for CPT1 A deficiency in the Hutterite community will serve as a prototype model for delivery of targeted genetic services to other similar unique genetic isolates [4].
SETTING AND PARTICIPANTS: Between September 1994 and December 1997, 16 unrelated individuals were referred to Genetic Services of Western Australia by local clinicians and by similar genetic services in other States, for VHL gene mutation analysis because of clinical manifestations suggestive of the diagnosis [5].
Attention is paid to new issues in counseling for hereditary cancer and Huntington Disease. Articles are presented on information recall of counseled individuals, the use and impact of genetic services on counselees (acceptance of testing; knowledge of inherited cancer susceptibility; risks of genetically testing children) [6].
One hundred and forty-six subjects (group 1) were referred from different ENT, paediatric and clinical genetic services, while 125 individuals (group 2) underwent Cx26 analysis based on precise anamnestic and clinical criteria for non-syndromic HI and low risk of acquired deficit [7].

Associations of Genetic Services with chemical compounds

The Blue Cross and Blue Shield Association's Genetic Services Benefit Study [8].

Gene context of Genetic Services

A genetic services microcomputer data base. Part II. Results and trends [9].
Genetic services: the March of Dimes' role [10].
The attitude of Japanese physicians regarding genetic service for autosomal dominant polycystic kidney disease (ADPKD) [11].
In addition, because of their special skills, program staff have made contributions to genetic services and to the development of national policy on maternal serum alpha fetoprotein [12].

References

'Inside-out', back-to-front: a model for clinical population genetic screening. Shickle, D., Harvey, I. J. Med. Genet. (1993) [Pubmed]
Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected. Ballo, R., Viljoen, D., Beighton, P. S. Afr. Med. J. (1994) [Pubmed]
A micro costing of NHS cancer genetic services. Griffith, G.L., Tudor-Edwards, R., Gray, J., Butler, R., Wilkinson, C., Turner, J., France, B., Bennett, P. Br. J. Cancer (2005) [Pubmed]
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. Prasad, C., Johnson, J.P., Bonnefont, J.P., Dilling, L.A., Innes, A.M., Haworth, J.C., Beischel, L., Thuillier, L., Prip-Buus, C., Singal, R., Thompson, J.R., Prasad, A.N., Buist, N., Greenberg, C.R. Mol. Genet. Metab. (2001) [Pubmed]
Efficacy of gene testing for von Hippel-Lindau disease. Martin, R.L., Goldblatt, J., Walpole, I.R. Med. J. Aust. (1998) [Pubmed]
Genetic education and counseling. Visser, A., Bleiker, E. Patient education and counseling. (1997) [Pubmed]
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. Orzan, E., Murgia, A., Polli, R., Martella, M., Mazza, A., Zacchello, F., Babighian, G. International journal of audiology. (2002) [Pubmed]
The Blue Cross and Blue Shield Association's Genetic Services Benefit Study. Kaplan, G.N. Birth Defects Orig. Artic. Ser. (1984) [Pubmed]
A genetic services microcomputer data base. Part II. Results and trends. Wertelecki, W., Superneau, D.W. The Alabama journal of medical sciences. (1987) [Pubmed]
Genetic services: the March of Dimes' role. Raff, B. Birth Defects Orig. Artic. Ser. (1990) [Pubmed]
The attitude of Japanese physicians regarding genetic service for autosomal dominant polycystic kidney disease (ADPKD). Nomura, S., Kawai, S., Fukushima, T., Katoh, H., Osawa, G. Jpn. J. Hum. Genet. (1994) [Pubmed]
Population and case-control surveillance in the search for environmental causes of birth defects. Oakley, G.P. Public health reports (Washington, D.C. : 1974) (1984) [Pubmed]

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