New guidelines for breast surgeons
• Genetic testing should be made available to all patients with breast cancer.
• Patients who had genetic testing previously may benefit from updated testing.
Tools for Pitt-Hopkins syndrome
• The group established two categories of clinical criteria: cardinal features, which are characteristic and highly specific for PTHS, and supportive features, which are less specific but increase the likelihood of the condition.
• Facial features are the most specific criterion and distinguish PTHS from Rett syndrome and Angelman syndrome.
• Criteria are meant to allow quicker diagnosis and access to appropriate management and therapies, which are also outlined.
• First aortic event (aortic dissection or aneurysm repair) occurred at a median age of 47 years and was rare in children.
• Most individuals had a family history of aortic disease or syndromic features that should trigger genetic testing, offering an opportunity to identify at-risk individuals and initiate timely preventive care.
• Aortic root size and age at first event as well as other arterial involvement for SMAD3 variant carriers are unique when compared with clinically overlapping conditions
Uptake of BRCA testing
• Of the women receiving BRCA genetic testing, 56.3% had no diagnosis of breast cancer; however, only 13.1% of these were for a familial variant.
• Over the course of the study, the proportion of women with an incidence of breast or ovarian cancer who received BRCA testing prior to surgery increased from 6.4% to 29.6%.
• Overall, annual testing rates fell 37.9% in women with incident breast and ovarian cancers and grew 33.3% in women without cancer diagnoses.
Unmasking Kabuki syndrome
• A diagnosis of Kabuki syndrome can be made in an individual of any age with a history of infantile hypotonia, developmental or intellectual disability, and a combination of major and minor criteria.
• Major criteria include a pathogenic variant in KMT2D or KDM6A and typical dysmorphic features for a definitive diagnosis.
• Long palpebral fissures with eversion of the lateral third of the lower eyelid accompanied by other dysmorphic features also support a definitive diagnosis in the absence of molecular genetic confirmation.
|Invitae news||This is us|
Prostate cancer & genetics
• Approximately 17% of >3,600 men with prostate cancer in this study had a pathogenic, likely pathogenic, or increased-risk allele identified.
• A full 37% of those with this positive result did not meet current testing criteria and would have been missed by guidelines.
“Together, as a genetics community, we have an important opportunity to help genetic medicine continue to expand and evolve.”
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.
View the previous editions of Genetics Insider:
To subscribe to Genetics Insider, please click here.