Answer:
The 20-year-old man's sister may be at risk of having a child with cystic fibrosis if that causes the condition. Cystic fibrosis is an inherited disorder caused by a mutation in the CFTR gene that affects the production of mucus in the body, leading to lung infections, digestive problems, and other complications. The disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene (one from each parent) to develop the condition.
The man's advice to his sister to see a genetic counselor is likely motivated by his concern for her and the potential child's health. A genetic counselor is a healthcare professional who specializes in assessing and counseling individuals and families on the risks and implications of genetic conditions. A genetic counselor can provide the sister with information about her risk of being a carrier of the CFTR gene mutation and the likelihood of passing it on to her children. The counselor can also discuss the different options for testing and provide guidance on how to manage the risk of having a child with cystic fibrosis, such as through preconception or prenatal testing, genetic counseling, or assisted reproductive technologies.
The man's recommendation is in line with the current guidelines of many medical organizations, including the American College of Obstetricians and Gynecologists (ACOG), which recommend that individuals who have a family history of genetic disorders or are carriers of certain gene mutations should be offered genetic counseling and testing. This approach can help identify and manage the risk of having a child with a genetic disorder and provide support and education to families.