Methodologies for non-invasive prenatal screening (NIPS)/cell-free fetal DNA screening: The methodologies of testing used for NIPS can be roughly divided into Massively Parallel Shotgun Sequencing (MPSS) and targeted DNA SNP testing.
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Non-invasive prenatal screening (NIPS), also known as cell-free fetal DNA screening, is now available to pregnant women across the U.S. It first became available in 2011, and in 2012, ACOG (the American College of Obstetricians and Gynecologists)
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Metis Genetics is thrilled to welcome Joy Redman as our newest Trusted Advisor. Please read on to learn more about Joy’s background and the expertise that she will offer our clients and partners.
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In Part 1 of this series, we discussed the many advantages of the use of technology and automation in genetic counseling. Metis Genetics’ work with a particular client for their non-invasive prenatal screening (NIPS) program provides a concrete example of the benefits of automation.
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Mike Fox, 29, learned a lot about saving lives when he started his company, Hyde Sportswear, which makes an ultra-thin life jacket called the Wingman. The life vest even caught the attention of Shark Tank producers.
The day Fox received the email from the Shark Tank casting director was his mom’s birthday. “It was the first year without her, and it felt like a sign,” he says. It would be one of many signs that Fox felt after his mother died, as her death led to saving his life.
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In the first article of this series we explored why genetic testing for certain cardiogenetic conditions is so important – one of several reasons is that it can save lives! In the second article, we discussed the wide range of cardiac conditions that can be inherited, and the signs and symptoms as well as family history that healthcare providers should be on the lookout for. Now that we know what to look for and why this is so important, our last article in this series explores the steps to take after identifying a patient suspected of having a cardiogenetic condition.
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Burnout can sneak up on you any time of year, but especially around the holidays. Practicing mindfulness techniques is a great first line of defense against burnout which you can do just about anywhere. Here, we identify techniques for decreasing burnout not only for genetic counselors but for anyone who is interested in being more mindful in their daily lives.
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In our first article we explored why genetic testing for certain cardiogenetic conditions is so important. Now that we have provided information about the wide range of cardiac conditions that can be inherited, which patients should you refer for genetic evaluation and consideration of genetic testing?
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The fields of genetics and genetic testing, and the technologies used to uncover variants in our DNA, have expanded and improved in leaps and bounds over the last decade. Genetic testing for specific changes that can affect patients’ health has been used routinely in several areas of medicine, including the prenatal, reproductive, pediatric and cancer fields. The field of cardiac genetics, or cardiogenetics, although a bit newer than some of the others, has followed suit.
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Like many couples thinking about starting a family, Katy and John Smith* discussed carrier screening with their doctor. Katy, 31, chose a carrier screening test for 281 genetic conditions and anxiously awaited the results. But when her doctor finally telephoned, the results were not what the Smiths expected.
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