Genetics lab director helps transform molecular diagnostics

It’s not easy for women and families to make critical reproductive decisions, especially when there is a history of inherited diseases such as cystic fibrosis. Stephanie Hallam, medical director at Good Start Genetics, has seen firsthand how devastating a genetic disease diagnosis could be when she worked as a counselor early in her career. Today, as she manages a state-of-the-art lab at Good Start Genetics, she’s on the clinical testing side of reproductive medicine, but is still advocating that accurate testing can help deliver healthy babies. Hallam spoke to Globe correspondent Cindy Atoji Keene about her role in using advanced technology in genetics at this Cambridge-based commercial clinical company.

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“Genetic testing falls into a category termed ‘high complexity testing.’ We sometimes joke that it is ‘super-high’ complexity testing. In order to complete genetic testing, we first extract DNA from the sample submitted, then perform the assay or analytic procedure, which is a multi-step process. The initial step of extracting DNA alone is more complex than the testing performed in many routine laboratories. Many people don’t realize the intricacy of what’s involved when they look at the cost of testing. If you walked into our laboratories, you’d see that it’s designed for high-throughput clinical testing. What this means is that automation equipment is used to address biological questions that are otherwise unattainable using conventional methods. Another way genetic testing differs is the interpretation of the results – they need to be looked at in the context of the individual’s family and medical history. It’s important to have personalized genetic counseling services as offered by Good Start Genetics to get more information, such as the likelihood of an outcome. Every test performed in the laboratory is reviewed by a board-certified clinical molecular geneticist before it’s released. One interesting example is a case of two patients referred from the same office, but with different addresses – they looked identical on our testing, which was unusual. When I called to discuss the results, I learned the patients were twins who had always wondered if they were identical – so we were able to answer that question for them. I’ve been in this field for over two decades, and I’m so thrilled that there’s been an explosion of progress. With next-generation sequencing – millions of small fragments of DNA are sequenced at the same time, creating a massive pool of data – we are picking up mutations that we were not able to find just a few years ago.”

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