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The Role of Technology in Genetic Testing

Information technology in genetic testing

In addition to  major technology advancements, testing is much more reliant on informatics solutions. Laboratories have significant challenges in the interpretation of a much increased number of sequence variants which is, of course, a critical step in providing patients useful test results. As such, labs must have robust bioinformatics and IT systems to support their diagnostic testing and interpretation workflows.

Over the next five years, I see continued, rapid adoption of genetics into standard of care. This will include more and more healthy individuals, from newborn babies to adults, getting genetic testing pre-symptomatically to identify risk for diseases. We already see an increase in the use of genetics to determine treatment approaches, as opposed to simply learning the underlying cause of disease.

BWH experience with GeneInsight

One major effort we are working on is expanding the number of clinical sites that have access to tools, like GeneInsight Clinic, to deliver electronic reports and receive automated updates of genetic variants as new information is learned. This provides clinicians with the most-up-to-date information that we have available.

GeneInsight has allowed us to become more efficient in the way we draft and deliver clinical genetic testing reports and has helped improve the accuracy and consistency of the testing and interpretations that we provide. GeneInsight has also facilitated deeper research into the clinical areas we service. By enabling easy access to, and query of, all of our historical data, we can facilitate new insights into genetic diseases.

Fundamentally, I believe GeneInsight facilitates a richer connection between the laboratory and clinics by enabling updated information to reach the hands of patients and their physicians at the time the information is needed. GeneInsight helps support patient care through delivery of structured genetic results directly to electronic health records that can be leveraged for clinical decision-making. It allows for delivery of real-time information and relevant updates to reach the hands of clinicians who can help make a difference in the life of that patient.


With GeneInsight and a long term collaboration with Partners, Sunquest is building a next generation genomics system that will reduce the cost and complexity of precision medicine and provide the market with an IT tool kit for implementing and integrating genomics into routine diagnostic workflows.

Heidi Rehm

CHIEF LABORATORY DIRECTOR. PARTNERS HEALTHCARE CENTER FOR PERSONALIZED GENETIC MEDICINE. Dr. Rehm was recruited in 2001 to build the Laboratory for Molecular Medicine (LMM) at Partners HealthCare Center for Personalized Genetic Medicine (PCPGM). She is a board-certified clinical molecular geneticist and Associate Professor of Pathology at Harvard Medical School and Brigham & Women’s Hospital with appointments at Massachusetts General Hospital and Children’s Hospital Boston.