Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India.

BACKGROUND

Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.

OBJECTIVE

To explore some complex issues in genetic counseling and testing (GCAT) in HD.

MATERIALS AND

METHODS

Vignettes of patients who underwent genetic testing along with pre and post-test counseling at our GCAT clinic.

RESULTS

Case 1: Diagnosis of juvenile HD meant that the healthy parent was an obligate carrier of the mutation. Case 2: Consanguinity resulted in a dense prevalence of HD and >50% risk for the progeny. Case 3: Predictive testing in youth with healthy parents but affected uncles and aunts revealed a HD expansion.

CONCLUSIONS

HD can present with complex inheritance patterns and proper counseling is necessary for better outcomes.