Question

Sarah and her husband Ari are of Ashkenazi Jewish descent. They married 2 years ago and are now ready to start a family. Sarah says that she wants to have genetic testing done to see if she and Ari are carriers of Tay–Sachs disease. Sarah has a cousin with Tay–Sachs, and she does not want her children to be affected. She knows that people of Ashkenazi Jewish descent are at a higher risk of getting several genetic diseases, but she does not understand why.

1. How would you explain to Sarah why people of Ashkenazi Jewish descent are more likely to get certain recessive diseases?

2. Which diseases are most common in this population?

3. Would you suggest that Sarah and Ari get direct-to-consumer genetic testing to see if they are carriers?

4. What would be the role of genetics professionals in caring for this couple?

Answer 1

1.The Ashkenazi Jewish are at risk of getting some sort of recessive disease because of the genetic carrier from their ancestors ,ethnicity, endogamy practiced widely,most of the population are carrier of the homozygous or heterozygous allele. This is as a result of genetic drift

2.Some of the most common disease found among them populations are

• Bloom syndrome
• Breast or ovarian cancer
• Tay sach disease
• Caravan disease
• Congenital deafness
• Cystic fibrosis
• Gaucher disease
• Family dysautonia
• Heamophilia C

3.1 in 4 or 1 in 5 Jewish are a carrier of some sort of autosomal recessive gene as hereditary. So it is best to send them to a consumer genetic testing to try screened and prevent any untoward incidents

4.The role of the genetic professionals are

• To explain in detail about the chances of various genetic disease innyheir group
• What preventive measures are available
• The type of screening available
• How the child growth and developmental stage will be after birth
• What sort of help is available in case of a child with genetic disorder
• provide psychological and emotional support in overall