The story of sickle cell disease

by Julia Wilkinson

From height, to dimples, to hair color, our genetics can define much of our physical identity. These inherited traits affect not only our looks, but also our health. Sickle cell disease (SCD) for example, is one of many inherited disorders that can be passed down through genes from parents to their child. However, unlike a…

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Updates to the Invitae Carrier Screen

Invitae is pleased to announce that we’ve made a number of updates and enhancements to our Invitae Carrier Screen to help better serve you and your patients. Improved panel customization We recognize that each of your patients has unique needs, which is why our carrier screen is now fully customizable. You can order just one…

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What is a genetic counselor?

Kate Lynch and Sienna Aguilar, Genetic counselors at Invitae

November 8th marks the second annual Genetic Counselor Awareness Day. Generally, when we tell someone that we are genetic counselors, they immediately ask: “What is a genetic counselor?” We’re often so limited by time that the answer barely scratches the surface. But if given the time, there is so much we would tell them about…

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Common patient misconceptions about PGT-A

Misconceptions abound about preimplantation genetic testing for aneuploidy (PGT-A). The good news is that the misconceptions are 100% treatable—the trick is to find a way to communicate this complex information in a manner that is understandable for all patients. At the American Society for Reproductive Medicine (ASRM) annual meeting last week, Invitae presented a roundtable…

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Three highlights from “The future of genetic testing,” a webinar with Randy Scott, chairman at Invitae

Randy Scott, PhD, recently presented a webinar The future of genetic testing: Making genetic information more affordable and accessible for all. In case you missed it, we’ve compiled the top three highlights from the webinar. Read on for the highlights or watch the entire recording. 1. Our vision: Affordable genetic testing for all Genomic technology…

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How do embryo biopsy techniques influence results?

Preimplantation genetic testing, including screening for aneuploidy (PGS or PGD-A) and diagnostic testing (PGD) for monogenic diseases or unbalanced translocations, is a tool for embryo testing aimed at identifying the euploid and/or non-affected embryos produced during an IVF cycle. When the technique is optimally applied, it can prevent the transfer of an embryo with a…

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Microarray testing, a prime solution in diagnosing neurological disorders

Historically, epilepsy and other common neurological disorders such as autism have been described based on their clinical features. They were grouped this way to assess response to treatment and to aid in diagnosis. In the modern era, genetics increasingly plays a role in determining these disorders’ etiology and influencing treatment decisions. For children with autism…

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The importance of genetic testing for stillbirth and miscarriage

The American College of Obstetricians and Gynecologists (ACOG) notes in Practice Bulletin #102, “Management of Stillbirth”, that stillbirth (a.k.a. intrauterine fetal demise, IUFD, or fetal death) is one of the most common adverse obstetrical outcomes, occurring in approximately 1 in 160 births at ≥20 weeks of gestation. These tragic losses affect approximately 26,000 patients per year in…

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Learning from genetic counselors at the National Society of Genetic Counselors Annual Education Conference in New Orleans

Erynn Gordon, Invitae genetic counselor

In late September, about 2,000 genetic counselors and students from around the country gathered in New Orleans for the National Society of Genetic Counselors’ Annual Education Conference. Focused on providing up-to-date information on medicine, research, and counseling across all areas of genetics from prenatal care to cardiology to oncology, this is the only conference devoted…

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