Genetic counseling for the next 25 years: Models for the future

1995 ◽  
Vol 4 (2) ◽  
pp. 115-124 ◽  
Author(s):  
Regina H. Kenen ◽  
Ann C. M. Smith
Keyword(s):  
Genetic Counseling ◽  
The Future

scholarly journals NIPT: current utilization and implications for the future of prenatal genetic counseling

2014 ◽  
Vol 34 (9) ◽  
pp. 850-857 ◽  
Author(s):  
Amanda Buchanan ◽  
Amy Sachs ◽  
Tomi Toler ◽  
Judith Tsipis
Keyword(s):  
Genetic Counseling ◽  
Prenatal Genetic Counseling ◽  
The Future ◽  
Current Utilization

scholarly journals Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Mouna Ouhenach ◽  
Abdelali Zrhidri ◽  
Imane Cherkaoui Jaouad ◽  
Wiam Smaili ◽  
Abdelaziz Sefiani
Keyword(s):  
At Risk ◽  
Genetic Counseling ◽  
Next Generation Sequencing ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Carrier Testing ◽  
Clinical Diagnostics ◽  
Next Generation ◽  
The Future ◽  
Generation Sequencing

Abstract Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generation Sequencing (NGS) techniques have considerably improved clinical diagnostics. A genetic diagnosis showing biallelic causative mutations is the requirement for targeted carrier testing in parents, prenatal and preimplantation genetic diagnosis in further pregnancies, and also for targeted premarital testing in future couples at risk of producing affected children by a known autosomal recessive disease. Methods In this report, we present our strategy to advise a future couple of first cousins, whose descendants would risk cystinosis; an autosomal recessive lysosomal disease caused by mutations in the CTNS gene. Indeed, our future husband’s sister is clinically and biochemically diagnosed with cystinosis in early childhood. First, we opted to identify the patient’s CTNS gene abnormality by using (NGS), then we searched for heterozygosity in the couple’s DNA, which allows us to predict the exact risk of this familial disease in the future couple’s offspring. Results We have shown that the future husband, brother of the patient is heterozygous for the familial mutation. On the other hand, his future wife did not inherit the familial mutation. Therefore, genetic counseling was reassuring for the risk of familial cystinosis in this couple’s offspring. Conclusions We report in this study, one of the major applications of (NGS), an effective tool to improve clinical diagnosis and to provide the possibility of targeted premarital carrier testing in couples at risk.

Genetic Testing and Genetic Counseling for Deafness: The Future Is Here

2001 ◽  
Vol 111 (4) ◽  
pp. 715-718 ◽  
Author(s):  
Jeannie Weir Brunger ◽  
Anne L. Matthews ◽  
Richard H. J. Smith ◽  
Nathaniel H. Robin
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
The Future

Response to Commercial Genetic Testing and the Future of the Genetic Counseling Profession

2018 ◽  
Vol 27 (3) ◽  
pp. 530-532
Author(s):  
McKinsey L. Goodenberger ◽  
Brittany C. Thomas ◽  
Teresa Kruisselbrink
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Counseling Profession ◽  
The Future ◽  
Genetic Counseling Profession
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