Role of the clinical genetic databases in a better performance of genetic counseling

Background and Aim : Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. To achieve this goal, a genetic counselor needs to interpret family and medical histories to assess the chance of disease occurrence or recurrence and educate about inheritance, testing, management, prevention, resources moreover counseling to promote informed choices and adaptation to the risk or condition. Methods : Clinical genetic testing has exponentially expanded in recent years, leading to an overwhelming amount of patient variants with high variability in pathogenicity and heterogeneous phenotypes. Accurate variation and genotype-phenotype databases are critical in our ability to make sense of the vast amount of information that massively parallel sequencing generates. Results : To be able to respond to patient inquiries about genomic data, variant interpretation, disease risk, and other issues, genetic counselors will need to be able to increase or refresh their awareness about genetics and genomics, and identify reliable resources to use or refer patients.Conclusion : The purpose of this review is to introduce and summarize the state of the art of variation and genotype-phenotype databases, how they can be used. Target databases include: expert-curated databases focused on clinical information with some variant data (e.g. GeneReviews), curated databases providing information on inherited phenotypes and genes with selected variant information (e.g. Online Mendelian Inheritance in Man; OMIM and MedGen) and open-source databases (e.g. ClinVar).

کلیدواژه ها:

Genetic counseling ، Database ، Genotype-phenotype ، GeneReview ، MedGen ، ClinVar