Answer Summary

B. Refer Sasha for additional evaluation for hemochromatosis.

Sasha's results are reassuring and dramatically lower the risk of life limiting or disabling recessive diseases in her future offspring. Eli does not need to be screened for these conditions. However, screening identified two different HFE pathogenic variants in Sasha, suggesting that she may be not only a carrier, but actually affected with hemochromatosis. It is not necessary to repeat carrier testing, but further evaluation is important to confirm a diagnosis and determine the extent of disease.

Since Sasha was focused on learning about reproductive risks, she may not have been prepared for the possibility that screening could identify her own disease risk. Fortunately, this is a generally mild and treatable condition. Patients and providers should be aware that some ECS panels include adult onset conditions with a wide spectrum of clinical implications. For example, some ECS panels may include genes associated with risk for thrombosis. In addition, some X-linked and recessive conditions are now recognized to cause complications for the female carrier.

See Dig Deeper – Health Risks in Carriers

Information about a milder, adult onset condition may not be as useful for a couple like Sasha and Eli, who are primarily interested in reproductive decision-making. Identifying Sasha as a carrier for hereditary hemochromatosis implies that Eli should be screened as well, and that further action should be taken if he is also a carrier. But are costly or invasive interventions (such as assisted reproduction or prenatal diagnosis) indicated for this kind of genetic risk? Questions about the ethics, psychosocial impact, and cost-effectiveness of reproductive screening for mild, treatable and adult onset conditions have not been resolved.