Diagnosing difficult diseases
• The UDN applied a multidisciplinary model for evaluation of 601 patients referred to the program.
• Establishing a diagnosis led to 21% of patients receiving changes to their recommended therapy, 37% updating their diagnostic testing, and 36% receiving variant-specific counseling.
• 31 new syndromes were defined as a new syndrome associated with either a previously known or a new gene or region.
Carrier screening for adoptees
• The majority (76%) of adopted individuals in the study were interested in the information provided by the testing.
• About three-quarters of individuals stated that they were interested in the test out of curiosity.
• More than half of respondents stated they would use the information to inform blood relatives; there was no statistically significant difference in this opinion between individuals of reproductive age and older individuals.
Higher than expected BRCA prevalence
• Of 89 positive individuals with available personal and family history data, 49.4% did not meet published guidelines for clinical testing.
• Compared to controls, previously unidentified individuals with a BRCA variant were more likely (53%) to have existing family or personal history information in their electronic health record suggestive of a hereditary cancer syndrome.
• Individuals with a personal history of breast or ovarian cancer had a significantly higher chance of having a BRCA variant. 20.9% of those with the variant had a personal history of breast cancer, compared with 5.2% in those who did not. 10.1% of individuals with the variant had a personal history of ovarian cancers, compared with 0.6% of individuals who did not.
• Within one year of family participation, 61% of variants were reclassified: most (84%) to benign.
• Most relatives (82%) enrolled in the study in a short time frame, two weeks to six months after being contacted by their family member.
• The patient-driven model for family involvement allowed these reclassifications to take place in a shorter timeframe than seen in previously published studies, suggesting that this model may be particularly effective.
Are guidelines keeping up?
• Patients who met clinical testing criteria had similar rates of pathogenic and likely pathogenic (P/LP) variants (9.4%) as patients who did not meet criteria (7.9%). The difference is not statistically significant.
• The results support significantly expanding guidelines for breast cancer patients.
Not all genetic tests are created equal
• 102 individuals who had received a positive result from a DTC genetic test were also tested at Invitae for clinical confirmation. 50% of these patients had received false-positive results from their DTC test.
• The clinical false negative rate was 88%—meaning that the majority of individuals who are at risk for hereditary breast cancer are not identified by a DTC test.
Code Talker Award
• Hannah is a genetic counselor at the UPMC Eye Center at the UPMC Children’s Hospital of Pittsburgh. She specializes in ophthalmic genetics, seeing patients from infancy through adulthood.
• From Hannah’s nominator, James McGowan: “Our case may be unique genetically, but the care and attention we received from her is not.” Read more >
• Request your complimentary copy of the Code Talker book of impactful stories here.
|This is us|
Internally at Invitae, we’ve been talking a lot about “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.
“I believe making genetic testing affordable and accessible allows all of us to take better, more proactive, ownership of our health.”
“I give my all to make an impact on people’s lives and possibly help them make the best decision for their health management.”
“A desire to answer enigmatic questions for our patients and my enthusiasm for complex systems biology motivate me to shepherd samples through our production pipeline.”
View the previous edition of Genetics Insider:
To subscribe to Genetics Insider, please click here.