Jornal de doenças genéticas e relatórios genéticos

Gene Card: A Personalized Guide to Genetic Counselling for Low Resource Countries

Anjali Aryamvally, Anwayee Das, Kriti Menon, Santhanam Rekha, Suman Jain, et al.

Objectives: Even with today’s widespread reach of healthcare technology, a large number of children are affected with genetic diseases that could be prevented with proper healthcare interventions. High statistics show that the awareness and information needed for preventing the next generation from inheriting these diseases is lacking. One reason for this situation is the insufficient number of trained genetic counselors around the globe. This calls for alternative platforms to convey personalized
genetic information to the people concerned.
Method: Genetic testing was done for individuals from Sickle Cell Anemia (SCA)-affected families and the data was compiled to make “Gene Cards” which was then used for genetic counseling. The gene cards proposed in the study were designed to contain clientspecific genetic test results and genetic counseling information in an easy-to-understand format. Additionally, gene cards were also designed for genetic counseling of all diseases with known Mendelian inheritance pattern.
Results: 24 gene cards were designed to represent autosomal, X-linked and Y-linked diseases. Genetic counseling using gene cards was met with both client and genetic counselor satisfaction.
Conclusion: The ability of the gene card to convey genetic information to non-specialists will be useful for effective genetic counseling and management of genetic diseases.