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Molecular Diagnostic Testing for Hair Loss Currently Limited

When it comes to androgenetic alopecia, female pattern hair loss, and alopecia areata, the role of molecular genetic testing remains limited, but that’s not to say it won’t play a major role in the future, noted Dr. Pedram Yazdan.

In fact, molecular genetic testing will likely play a prominent role with respect to prediction and diagnosis of hair loss, disease severity, and expected response to therapy, he noted.

Genetic factors appear to play a significant role in hair-loss pathogenesis, but the remarkable advances in genomic discovery and molecular diagnostic testing seen in other areas of medicine haven’t quite made their way to this indication (Sem. Cut. Med. Surg. 2012;31:259-67).

"The current gold standard in diagnosis of these alopecias is by clinical history, examination, and, when necessary, scalp biopsy for histopathologic evaluation," wrote Dr. Yazdan of the department of dermatology at Northwestern University, Chicago.

An important role for molecular diagnostics likely lies in the small number of cases in which the diagnosis cannot be ascertained by the existing modalities – cases in which the clinical and histopathologic features of the condition are ambiguous and thus make a definitive diagnosis difficult, Dr. Yazdan noted.

Another role may relate to predicting the course and severity of hair loss, which is currently difficult to accomplish as "there are no reliable and validated clinical or histologic features that can provide patients with prognostic information," he wrote.

"It is conceivable that once the underlying genetic risk profiles of these forms of hair loss are more fully established, this information can potentially be used to aid in more definitively elucidating pathogenesis of the hair loss," which in turn, would aid in the development of diagnostic testing, he noted.

Molecular diagnostic testing for alopecia would also allow for risk stratification in terms of development and severity, and, importantly, would advance the field of pharmacogenetics for alopecia. Currently, treatment options are limited in both number and effectiveness.

Dr. Yazdan described a future in which both therapeutic and targeted preventive therapies, coupled with testing to determine treatment response potential, will allow for personalized treatment of these common and complex conditions, which cause patients substantial anxiety.

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