Adriana Malheiro, Ms, Cgc

About Adriana Malheiro, Ms, Cgc

Adriana Malheiro is a Director at the National Institutes of Health, where she has worked since 2010. She leads initiatives in medical genetics and pharmacogenomics, including directing the NIH Genetic Testing Registry and serving as editor-in-chief of Medical Genetics Summaries.

Work at National Institutes of Health

Adriana Malheiro has been a key member of the National Institutes of Health (NIH) since 2010. She currently holds the position of Director, a role she has occupied since 2017. In her capacity as Lead Curator for Medical Genetics and Human Variation at the National Center for Biotechnology Information (NCBI), she has contributed significantly to the field of medical genetics. Her work involves overseeing the NIH Genetic Testing Registry (GTR), which catalogs over 50,000 genetic tests from laboratories across 41 countries, covering more than 10,000 conditions.

Education and Expertise

Adriana Malheiro possesses a Master of Science degree and is certified as a Genetic Counselor (CGC). Her educational background equips her with the knowledge and skills necessary for her roles at NIH, particularly in the areas of medical genetics and pharmacogenomics. She serves as the editor-in-chief of Medical Genetics Summaries, where she synthesizes pharmacogenomic evidence to inform drug therapy decisions.

Achievements

In recognition of her contributions to the field, Adriana Malheiro received the NIH Director’s Award in 2012 as part of the Genetic Testing Registry (GTR) Policy Team. This award highlights her involvement in initiatives aimed at enhancing pharmacogenomic information and standardizing the interpretation of genetic variants, which are critical for improving patient care.

Leadership in Genetic Information

Adriana Malheiro directs the development and maintenance of MedGen, a portal designed to aggregate clinically relevant genetic information from authoritative sources. This initiative aims to provide healthcare professionals with access to vital genetic data, thereby supporting informed decision-making in clinical settings. Her leadership in this area underscores her commitment to advancing the field of medical genetics.

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