Did you catch what our colleagues are doing?
Increasing uptake of BRCA testing for women with high-grade serous ovarian cancer
BRCA genetic variants are present in up to 15% of patients with high-grade serous carcinoma of the ovaries, fallopian tubes, or peritoneum. A new study from McGill University in Montreal, published in the International Journal of Gynecological Cancer, shows that BRCA1 and BRCA2 testing initiated at the time of diagnosis can increase testing uptake and decrease testing delays when compared with a traditional genetic testing model:
Practical guidance for managing patients with metastatic castration-resistant prostate cancer
A panel of 14 experienced urologists and medical oncologists have released new guidance on managing patients with metastatic castration-resistant prostate cancer. Published in a review article in The Prostate, the new guidance complements national guidelines and is intended for providers from all practice settings who evaluate and manage patients with advanced prostate cancer:
Need for consistent terminology in genetic testing for precision medicine in oncology
Precision medicine in oncology is only possible if the biomarkers and germline genetic variants in a cancer patient’s tumor or other biospecimen are known and understood. However, many patients don’t know how to communicate with their providers about genetic testing to uncover these characteristics, in part because of a lack of consistent terminology about the tests. The LUNGevity Foundation convened a working group to develop consistent, simple language that can be used by a variety of stakeholders including patient advocates, providers, and policy makers to talk about genetic testing for precision medicine. The recommendations of the working group have been published as a white paper:
Genetic testing for cardiovascular diseases
A new scientific statement from the American Heart Association highlights how genetic testing can improve diagnosis and management of individuals with cardiovascular conditions ranging from inherited arrhythmias to cardiomyopathies, familial hypercholesterolemia, and inherited vascular disorders:
Genetic testing changes clinical management of pediatric epilepsy
In a recent study published in Clinical EEG and Neuroscience, researchers looked for changes in clinical management of 91 pediatric epilepsy patients who underwent panel-based testing based on next-generation sequencing:
Causal genetic variants in stillbirth
There are limited data on monogenic disorders that may be responsible for stillbirth, and its cause remains largely unknown. A study in The New England Journal of Medicine evaluated the diagnostic utility of clinical exome sequencing in 246 stillbirth cases:
Committee opinion on clinical management of mosaic results from preimplantation genetic testing for aneuploidy
With advances in technology increasing the ability to detect and report mosaicism for aneuploidy in embryonic trophectoderm biopsies, there is much discussion on how to interpret these findings and whether embryos with a mosaic result should be stored and transferred. An opinion piece from the Practice Committee and Genetic Counseling Professional Group of the American Society for Reproductive Medicine (ASRM), published in Fertility and Sterility , reviews the literature and outlines various considerations regarding clinical management:
Here’s what we’ve been up to
You asked for more content in your genetic tests. We heard you, and this month added additional genes and panels to our test catalog, including:
Buccal swab sample collection now available
For pediatric patients who are unable to submit a blood or saliva sample, buccal swabs make it possible to collect a quality DNA sample. We’ll even ship kits straight to your patients’ homes so they can get the answers they need sooner. Whether you opt for saliva, blood or buccal collection, you’ll get the same prices, quality, and service you know and trust. Request a kit.
Non-invasive prenatal screening
The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine (SMFM) recently updated their Practice Bulletin (Number 226 replaces Number 163) on Screening for Fetal Chromosomal Abnormalities. ACOG and SMFM recommend that prenatal genetic screening (including non-invasive prenatal screening, NIPS) and diagnostic testing should be discussed and offered to all pregnant patients, regardless of maternal age or risk. 1
Given the guideline update, we’d like to remind you that we’ve brought non-invasive prenatal screening (NIPS) in-house, which allows us to make significant enhancements based on feedback from GCs like you. Now we’re able to offer:
Breast Cancer Awareness Month
October is Breast Cancer Awareness Month, making it a busy month for many cancer genetic counselors. This year, Invitae will work to drive awareness about genetic testing and the role that it plays in breast cancer, especially given the current public health crisis that has caused many patients to delay important cancer screenings, like mammograms.
As always, Invitae views genetic counseling as an important part of the genetic testing process. We will continue to drive patients and their doctors to our Genetics Provider Network (GPN) so they can more easily find you before, during, or after the testing process. If you have not yet done so, please join the network so that patients visiting our website can find you when they search for a genetic counselor in their area.
This and every month, we keep GCs at the heart of everything we do at Invitae!
Invitae and ArcherDX
In June, we announced an exciting development: Invitae and ArcherDX will be joining forces to create a global leader in comprehensive cancer genetics and precision oncology, to bring germline and somatic testing, liquid biopsy and tissue genomic profiling onto a single platform. Read more here.
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:
Honoring the heart that genetic counselors bring to patient care
Mark your calendars to recognize your profession with the emotional stories of what excellent care feels like to patients. Presented by the National Society of Genetic Counselors (NSGC) and Invitae, the Heart of Genetic Counseling Award pays tribute to the distinguished genetic counselors who provide exceptional and irreplaceable care to families dealing with major health challenges.
The distinguished nominees and finalists will be unveiled and one will be honored with the Heart of Genetic Counseling Award. Lindsay Avner, the Founder of Bright Pink, a leading national breast and ovarian health non-profit, will share her story and mission as a featured guest speaker.
You don’t want to miss the virtual award ceremony on November 19 at 4:30 pm Central.
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.
There are many reasons why I chose the field of genetics, and many reasons why I chose Invitae. The “why” that weighs most on my mind currently is my mother-in-law, who passed away last week. She was diagnosed with breast cancer 6 years ago, and had been in remission for the last 4 years. One year ago, she was diagnosed with stage 4 metastatic gallbladder cancer that took a year to diagnose, at which point it was inoperable and essentially untreatable. Gallbladder cancer is quite rare, although it is more prevalent among Latinas for unknown reasons. Unless we continue to test people and further lower barriers to medical testing, we may never understand why. Never stop asking why and never cut corners. We should (and, at Invitae, we do) treat every test as if it belonged to our family member anxiously awaiting an answer. This motivates me every day, even on days as sad as this one.
—B. Monica Bowen, PhD | Clinical Genomics Scientist