SEISMIC SHIFT disguised as a practice resource guideline. Amazing work by Marc Tischkowitz et al from ACMG to bring to light the level of nuance needed to in the consideration of testing, interpreting, and management of variants in CHEK2. Unlike widely recognized genes, e.g. BRCA1/2, more understanding and nuance are needed in the testing and interpretation of CHEK2. Without this, the risk of overtreating and unintended harm cannot be ignored. Patients and providers need this important resource to understand when CHEK2 should be considered for testing, what results are actionable, and what to do when they are. Evidence-based with clear recommendations: an invaluable resource - check it out. https://lnkd.in/gDbsubW4 If you are interested in hearing more about what this means for clinical care and healthcare operations, let’s connect! #breastcancer #evidencebasedmedicine #genetictesting #geneticcounseling
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To my Portland friends - took my family to see this movie last night and it was a total delight. It is a personal and intimate (but also funny and heartwarming) story of love and friendship and disability. So much more to say, but don’t want to give anything away. It is playing at 2pm on Sunday August 18th at the Vancouver Mall. Even my teenagers loved it. Go check it out. And if you are not in Portland, it may be playing near you too. The film website (www.goodbadthings.com) has a list of cities and showings. Thanks to Dr. Dr. Neena Nizar for bringing this to my attention. Would never have heard of it otherwise. But this lovely film deserves a wider audience.
DIRECTOR'S STATEMENT
goodbadthings.com
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Highlighting the recent report from the National Council on Disability - "From Fetal Surgery to Gene Editing". Appreciate the NCD Executive Committee's resolution to formally support the recognition of genetic counselors as healthcare providers under Centers for Medicare & Medicaid Services (Support the Access to Genetic Counselor Services Act - Link in Comments) Shout out to Deepti Babu, Katie Stoll, MS, LGC, Laura Hercher, and Sandra Prucka for their work in this process!
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“…Beliefs out there that the pharmacogenomic testing, in psychiatry in particular, tells us a lot more information than it actually does.” - Psychiatry Times Editor-In-Chief Dr. John J. Miller, M.D. “Limited actionable information and what is actionable isn’t definitive.” Conclusion from the 2024 guideline update: Fully blinded studies and better quality data overall are needed. Four myths which need to be debunked are also included in the article. Must read (PMID: 38685859). Behind a paywall 🙁 (someone should do something about that if possible Dr. Charles Nemeroff since your group did such great work, shame for interested parties not be able to access it!) Particular importance of focusing on the use a pharmacogenomics to avoid serious adverse events is worth serious consideration, but even there better data is needed. There is a lot of hope for the promise of pharmacogenomics. But until we do a better job of collecting high-quality data and translating that into meaningful benefits in clinical practice, caution over using large, combinatorial panels is warranted. This is important information for patients, providers, and patients. Please share widely.
Psychiatric pharmacogenomics is NOT evidence based to determine which drug to use to treat depression. Here is a 6 minute video of an interview I presented this month (May 2024) reviewing the current consensus by the experts on this issue. The American Psychiatric Association just published this month their consensus statement 5 year update on this issue: AJP in Advance (doi: 10.1176/appi.ajp.20230657). This conclusion is entirely consistent with the CPIC (Clinical Pharmacogenetics Implemetation Consortium), the ISPG (International Society of Psychiatric Genetics), and the FDA's website listing evidence-based drug-gene associations. #pharmacogenomics, #CPIC, #ISPG, #evidencebasedpsychiatry, #psychiatrictimes, #psychopharmacology https://lnkd.in/eTfB6urq?
Pharmacogenomics: Sticking to the Evidence Base
psychiatrictimes.com
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Sharing for broader reach to invite more eyes and comments.
Looking after Bronx patients with genetic problems, using medical genomic information and molecular genomic assays, trying to understand how to bring epigenetics into practical use in medicine.
Reminding you all that comments on these draft principles are all going to be welcomed. Please share to your networks so we have as many eyes on this as possible. It's critical we get this right, the document will be entering a void of guidance and will be an important reference point for the field. https://lnkd.in/eRy3CBAQ
Invitation for Public Comment: WHO principles for human genome access, use and sharing
who.int
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MUST READ for every clinician who sees patients. In order for Precision Medicine to achieve its goals, it has to be understood deeply by those responsible for ordering, interpreting, and acting upon test results. Too often currently this is not happening, with the very real potential for devastating implications for patients. Instead of talking about the shortage of genetics professionals, we need to talk about how to leverage the knowledge of genetics professionals more broadly to help achieve the fullest potential of Precision Medicine. And we need to require that any provider ordering a genetic test understands for whom the test is indicated, why it is indicated, and what the results may mean (both positive and negative). Shout out to this recommendation: "In addition to requiring adequate provider training to support patient counseling and test interpretation, health care institutions will need to devote resources to reducing inappropriate test ordering, for instance by funding genetics specialists to spend part of their clinical time curating educational resources for patients and clinicians and providing peer-to-peer genetic consultation services for ordering clinicians." Couldn't agree more! Thank you Stephanie Malia Fullerton and Kyle Brothers for this important perspective.
Expanding Applications of Clinical Genetic Testing — Ethical Challenges | NEJM
nejm.org
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Thanks Turna Ray, this is such important information for those with NSCLC. Want to elevate the experts call for greater transparency in regards to EGFR status. Use of EGFR TKIs is only indicated for a few select variants in the first line setting (e.g., exon 19 deletion, L858R) as not all EGFR variants benefit from TKI treatment. Some dual-positives may have immunotherapy as the preferred choice for treatment when considering both PD-L1 and EGFR specific variant status. Without knowing the specific EGFR variant, it is hard to know how to interpret this data. It could be that the decreased survival in those treated with immunotherapy was secondary to a missed opportunity for EGFR TKI treatment for those with select EGFR variants. On the other hand, it could merely reflect a decreased survival benefit from immunotherapy for those without select EGFR variants where an EGFR TKI is not indicated. Without disclosure of the EGFR variants, it is impossible to tease these two potentials apart. Knowing how to address this concern in clinical practice depends on this clarity. More transparent disclosure of both the gene and variants when looking at outcomes data is urgently needed.
A real-world data analysis of patients who were found have PD-L1 expression- and EGFR mutation-positive tumors between late 2018 and 2023, showed that around 40 percent received front-line anti-PD-1/PD-L1 treatment instead of an EGFR inhibitor like the National Comprehensive Cancer Network® (NCCN®) recommends. Dual-positive patients who received first-line EGFR inhibitors lived longer than those who didn't. Broadly, these findings are in line with other studies that have shown over the years that patients aren't receiving appropriate biomarker-informed treatment. But experts reflecting on this latest data said they want more granular analysis of prescribing patterns based on year of treatment and patients' EGFR mutation type to better understand if more patients today are getting guideline-condordant care than they were back in 2018 and if clinical practice is headed in the right direction. https://lnkd.in/eBfMtGWR
NSCLC Patients Who Should Get First-Line EGFR Inhibitors Are on Immunotherapy Instead, Study Finds
precisionmedicineonline.com
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COO | execution with empathy | operational excellence and efficiency
1yI always appreciate your perspective!