Did you catch what our colleagues are doing?
National Lipid Association statement on genetic testing in lipid disorders
In the Journal of Clinical Lipidology, an expert panel from the National Lipid Association reviews the evidence and clinical considerations for genetic testing of dyslipidemias and makes several recommendations:
Intellectual disability and neuropsychiatric comorbidities in individuals with pathogenic PCDH19 variants
Girls clustering epilepsy is an X-linked disorder, caused by pathogenic variants in PCDH19, that affects heterozygous female and mosaic male individuals (but generally not hemizygous male individuals). Previous meta-analyses and retrospective studies have demonstrated negative correlations between age of seizure onset and severity of intellectual disability; however, the neuropsychiatric profile of this condition is less understood. In a new patient-centered survey including 112 female and male (both mosaic and hemizygous) individuals, researchers utilized standardized assessments of autism spectrum disorder, behavioral difficulties, executive dysfunction, and obsessive compulsive disorder to measure the prevalence of neuropsychiatric comorbidities. Results are described in the journal Translational Psychiatry:
Systematic review: Interest in expanded carrier screening among the general population
The risk of passing on an autosomal recessive or X-linked disorder is often unknown because of a lack of family history of the disease. Expanded carrier screening (ECS) provides the ability to screen individuals and couples for up to hundreds of these disorders at one time, enabling informed reproductive decision making. Current guidelines recommend offering carrier screening to all women and couples prior to pregnancy. In Human Reproduction Update, a systematic review of 12 studies published between 2015 and 2019 reveals some key insights into women’s and couples’ attitudes toward and uptake of ECS:
New guidance on germline genetic testing for prostate cancer
Nearly 100 experts from a variety of clinical and scientific disciplines gathered at the 2019 Philadelphia Prostate Cancer Consensus Conference to discuss how clinicians can use genetic testing to help patients benefit from precision medicine approaches to prostate cancer. Detailed recommendations from the conference, published in the Journal of Clinical Oncology, encourage expanded use of germline testing to guide treatment:
Genetic testing for patients with myocarditis
Some healthcare providers may hesitate to order genetic testing for patients with suspected or diagnosed myocarditis (i.e., inflammation of the heart muscle), as it has been unclear whether myocarditis can have an underlying genetic component. However, the results of three recently published studies show that genetic testing for these patients can help explain the occurrence of this heart condition and associated cardiomyopathy:
The May 2020 issue of the Genetics Insider contained errors in the literature review summary entitled “Large cohort analysis of the rare germline EGFR T190M variant.” In the title and throughout the summary, the variant was incorrectly referred to as EGFR T190M. The correct name of the variant is EGFR T790M. Also, the name of the journal was cited as Precision Oncology. The full name of the journal is JCO Precision Oncology. The original article that the summary was based on can be accessed here.
Here’s what we’ve been up to
Pilot program to identify primary immunodeficiencies through genetic sequencing
The Jeffrey Modell Foundation, in partnership with Invitae, launched a free international pilot program in 2019 to identify genetic causes for patients clinically diagnosed with primary immunodeficiencies. The results, described in the journal Immunologic Research, highlight the importance of next-generation sequencing for reaching precise diagnoses and confirming or advancing appropriate management and treatment:
Clinical evaluation and management of patients with secondary genomic findings
As exome and genome sequencing become more common, the incidence of secondary genomic findings (i.e., genetic variants that are not related to the primary reason for genetic testing but may nonetheless have medical implications) is also expected to rise. In a review article in the American Journal of Human Genetics, clinical and molecular geneticists from the National Institutes of Health, Invitae, and several other institutions offer guidance on how physicians can clinically evaluate and manage patients with these findings:
Genetic testing telehealth solutions for genetic counselors
Juggling phone and video appointments, finding ways to connect with patients from afar, and adapting to today’s new normal can feel overwhelming—and that’s before adding personal and family responsibilities to the mix. As we think about a path forward in this new normal, Invitae Chief Medical Officer Dr. Bob Nussbaum shares a few of Invitae’s flexible telehealth solutions. Watch the short video here.
Helping patients understand what a genetic counselor does
Many patients, and even family and friends, often don’t fully understand what genetic counselors do—not to mention the essential role they play in healthcare. The blog post What is a genetic counselor and why do I need one? addresses some of the most common questions around genetic counseling. We hope you will share this 3-minute read with those in your networks that might benefit from an explanation or a refresher.
Webinars: Keeping you informed
We’re dedicated to keeping you up to date on the most important issues in genetics today, especially at a time when many of us are unable to attend in-person conferences. Check out these recent webinars:
Invitae’s sponsored testing programs provide no-charge genetic testing to patients who meet certain eligibility criteria. Saliva kits can be shipped directly to patients for sample collection. Learn more here and see below for program updates:
This is us.
At Invitae, we always ask, “What is your Why?”
Why are we inspired by Invitae’s mission? Why do we get up every day and put 110% into our work? Here’s a little insight into why we’re dedicated to increasing access to genetic information for everyone.
When I was 9 years old, I had a cousin born in Australia who died at 2 days old. It was my aunt and uncle’s first pregnancy and had been textbook perfect/normal. The delivery was normal, but my cousin had a tough time breastfeeding and, on his first day of life, my cousin slipped into a coma and passed away on day 2.
To say that my aunt and uncle were devastated is an understatement. After an autopsy and some extensive genetic testing, my cousin was diagnosed with MCAD deficiency. At the time, he was the 90th person in the world to be diagnosed. My aunt and uncle met with genetic counselors and got pregnant again. They did genetic testing during that pregnancy and knew that their second baby was not affected. They still didn’t fully trust that information, though, and did not even tell the family that they were pregnant! Instead, we got a call saying that they had a healthy 3-day-old son.
That had a profound impact on me. I remember my parents trying to explain genetics and why my first cousin passed away. And years later, when it was time to start my own family, the ability to have carrier screening for both me and my husband was huge. I was found to be a carrier and my husband was negative, so we were lucky and in a low-risk category.
My brother wasn’t as lucky: both he and his wife are MCAD carriers. But knowing that information has given them the ability to make informed choices about their reproductive options.
Access to genetic testing and genetic counseling has been incredibly important in my family, and I am proud to work for a company that is dedicated to providing high-quality genetic testing and increasing access to that testing for all families.
-Julia Wilkinson, Medical Affairs Liaison, Reproductive Health