Genetic counseling

Epstein, C. J. "Genetic Counseling - Past, Present and Future" In "Birth Defects and Fetal Development, Endocrine and Mietabollc Factors", ed. K. S. Moghlssl, Charles C. Thomas Publisher, Springfield, Illinois, 1974. 

The cost associated with genetic counseling may well dwarf the direct expenditure on testing. 

Linkage analysis by studying RFLP patterns in two or more generations of family members afflicted with a disease is useful for genetic counseling for the prediction of inherited disease, in spite of its limitations, such as the possibility of genetic recombination or the presence of more than one gene locus in different family members. 

Single gene Single gene does not differentiate among alleles Genetic counseling... 

Allele-specific oligonucleotide Specific alleles of a gene Genetic counseling and DNA fingerprinting... 

In a genetic counseling session, a healthy couple has revealed that they are first cousins... 

Approximately 50% of cases involve new mutations and even in cases of inherited type INF, variability of expression in kindreds makes genetic counseling very difficult. 

A couple undergoes genetic counseling for consultation on the possibility that they may have a child with Friedrich s ataxia, an autosomal recessive neuromuscular disorder. The disorder has been diagnosed in the wife s sister, and they are concerned that she is a carrier. The incidence of the disorder in the population is 1 in 25,000 live births. 

P2. Pauker, S. R, and Ranker, S. G., Prenatal diagnosis A directive approach to genetic counseling using decision analysis. Yale J. Biol. Med. 50(3), 275-289 (1977). 

R4. Rimoin, D. L., Greenwald, S., et al, Unique considerations for genetic counseling in conununity-based carrier screening programs. Prog. Clin. Biol Res. 18, 297-304 (1977). 

Patients with an inherited defect of peroxisomal function usually have both an increased C26 0 level and an increased C24 C22 ratio. An isolated moderate increase of C26 0 has only rarely led to a true diagnosis. Nevertheless, every persistent abnormality of VLCFA levels and/or ratios should be checked by studies in fibroblasts in order to arrive at an accurate diagnosis so that genetic counselling of the family can be arranged. Erroneously increased VLCFA levels are rare a ketogenic diet is the only well-known example. 

Fabry disease is an X-linked disorder and accurate carrier detection is important for genetic counseling and because enzyme therapy is available for clinically affected hemizygote and heterozygote patients. Because of random X-inactivation, not all heterozygotes can be reliably identified by enzyme assay, and mutation analysis is strongly recommended. 

Mahowald, M.B., Verp, M.S., Anderson, R.R. (1998) Genetic counseling clinical and ethical challenges. Annu. Rev. Genet. 32,... 

---