Center for Genomic Interpretation

"Clinical laboratories still face uncertainty and the difficult decision of whether to start the work needed to comply with the with Phase 1 expectations under FDA’s?Laboratory Developed Tests Final Rule?(the “LDT Final Rule”), which remain set to go into effect on May 6, 2025." "As is often the case with a major regulatory landscape change, the LDT Final Rule has been subject to scrutiny and legal challenges since its publication in May 2024. Perhaps the most watched of these is the ongoing litigation in which the American Clinical Laboratories Association (“ACLA”) and the Association for Molecular Pathology (“AMP”) have challenged the FDA’s authority to regulate LDTs by way of the LDT Final Rule. The presiding federal district court just heard arguments on the parties cross-motions for summary judgment, and noted a decision on those motions would be issued soon, likely before the Phase 1 deadline. The outcome will have significant implications for labs in the U.S." https://lnkd.in/gcXGhJqm #FDA #LDT

Regarding the FDA’s final rule to regulate #LDTs: According to Christine P. Bump, no President can rescind a federal regulation or agency final rule by Executive Order. Her recommendation for labs is to stay on track to be compliant with Stage 1 FDA requirements (6 May 2025 deadline), even with the pending legal cases. Read her commentary below.

For those wanting to read a more digestible version of the FDA's new rule to regulate #LDTs (#LaboratoryDevelopedTests), don't miss their handy compliance guide that came out last month. There are excellent summary tables contained within. See https://lnkd.in/dQ-w-ZEp #ClinicalGenetics #Genomics #PrecisionMedicine #PrecisionOncology

While new #FDA oversight of #LaboratoryDevelopedTests (#LDTs) may or may not survive legal & legislative challenges, consider this: "[FDA oversight] should help tamp down the exaggerated claims used to market some LDTs. However, by considering the problem “solved” as long as LDTs and non-LDTs are treated similarly, the FDA proposal obscures a fundamental mathematical limitation to testing, which too many patients and doctors are unaware of: Practically?all?tests, not just LDTs, carry the risk of false positives, which can render the results effectively useless when the condition is rare enough. For such conditions, many tests should only be used when additional risk factors or symptoms are present." "...suppose you used one of several prenatal LDTs marketed to routinely check for such genetic birth defects like Prader-Willi or Wolf-Hirschhorn syndromes, each of which has an incidence of only about 1 in 20,000 births (i.e. 0.005%). Let’s say this test had a similar false positive rate of 1% (again?comparable?to what may be observed in practice). If the test came back positive, then the chance of it being a true positive would again be almost zero. More precisely, 199 out of 200 positive results, on average, would be wrong." "...Rather, a positive test needs to be followed up by?more decisive tests, which, if they exist, are generally both expensive and invasive, and may even carry a small risk of miscarriage. This follow-up?doesn’t always happen. A probable reason for this is that many doctors?misinterpret [https://lnkd.in/gEjn5J-w]?a 1% false positive rate to mean that a positive result has a 99% chance of being correct. As?research [https://lnkd.in/dEAhx2y]?from one of us, Daniel, and his colleagues has shown, such lack of statistical understanding leads even physicians to vastly overestimate the risk of conditions like heart attacks, breast cancer, and infections. As a result, they often prescribe unnecessary antibiotics and other treatments. Patients also make the same errors in estimations." "Let us suggest three remedies. The first is for the FDA to require all tests (to the extent possible) to carry clear-cut, easily comprehensible labeling on what a positive result really means — i.e., what percentage of these can be expected to be true positives. A similar disclosure for negative results should also be mandatory; false negatives can be a significant problem for less rare conditions. The second is to improve statistical understanding of medical issues in both physicians and patients.?..." "The third is to repudiate the idea of testing being a panacea. Too many patients think they should go in for as many tests as their insurance will cover, in order to guard against even outlandishly improbable conditions. People need to understand that testing is a gamble, and they need to know how to make a smart bet." Read it all at: https://lnkd.in/gPaVUFKW #ELEVATEGENETICS

Last chance to learn from NCI Division of Cancer Prevention experts Drs. Wendy Rubinstein and Christos Patriotis about the current state of the science for multicancer detection tests and how NCI is addressing this new technology. Register today for this free webinar: https://buff.ly/4aZbBa5 #MulticancerDetection #CancerResearch

"???????? ???????????????????? ???????????? [??????????] the false positives depending on which laboratory you've been tested at, ???? ??????'???? ???????????????? ?? ????????????????, ???????????????? ?????????????? ?????????? ??% ???????????? ???????? ???? ?????? ?? ?????????? ????????????????, ???? ?? ???? ????, ???? ?? ????%, ???? ?? ???? ?? ???????????? ???????? ????'?? ???????? ?? ?????????? ????????????????. Your false negatives, again depending upon where you've been tested, and what your prior risk was, what the family history was and your personal history of cancer was, that varies enormously depending upon which lab you were tested in, can range anywhere between, ... 5% up to maybe about 15% is my guess, if you were negative." (This quote is from Julie Eggington, MS, PhD, our CEO, and starts at time point 21:22 in the linked interview recently filmed for Hope Abounds Cancer Network). If you're a #HealthInsurance #Payer, #SelfFundedEmployer, clinician or patient wanting to figure out which labs are following the generally accepted standards and guidelines for high quality genetic and genomic testing, then ask labs for their #ELEVATEGENETICS BRILLIANT results. ELEVATEGENETICS BRILLIANT is an advanced proficiency test offered by our nonprofit Center for Genomic Interpretation that measures how well labs follow guidelines in their DNA sequencing detection, annotation, #VariantClassification, and reporting (see https://lnkd.in/djdjfWXw ). There is no proficiency test as advanced and complete as ELEVATEGENETICS BRILLIANT. The proficiency test uses standards, guidelines, and benchmarks published by the Association for Molecular Pathology (AMP), ACMG - American College of Medical Genetics and Genomics, College of American Pathologists (CAP), American Society of Clinical Oncology (ASCO), ClinGen Resource, and the FDA. Learn more by contacting us at [email protected]. #ASCO, #AMP, #CAP, #ACMG, #ClinGen, #FDA, #QualityHealthcare

?????????????? ?????????????????????? ???????????? ???????? ???? ?????? ???????? $???? ?????????????? ?????? ???????????????? ?????????? ???? ???????????????????? ???????? ???????????? ?????????????? ?????????? "This settlement includes the resolution of allegations brought in three cases filed under the?qui tam?or whistleblower provisions of the FCA, including an action filed by Robert Gerstein, a minority owner of Sonoran Desert Pathology, where he worked for Hurt, running the billing operations for CGx tests. Under the FCA, private parties can file an action on behalf of the United States and receive a portion of any recovery. Under today’s resolution, Relator Gerstein will receive up to $4.7 million or 17% of the government’s recovery." Read all about it at: https://lnkd.in/g9Yj6nMP #ELEVATEGENETICS

If you missed Julie Eggington, MS, PhD's talk with Stanford University's METRICS program titled "?????????????? ???????????????? ???????????????? ???????????????? ?????? ????????????????: ?? ???????????? ???? ?????? ???????????????? ???????? ???????? ???????????????????????? ???????? ???????????? ?????????????????????? ?????? ???????????? ???????????????? ?????? ???????? ?????????????? “?????????????????? ????????????????” ???? ?????? ??????" here it is on YouTube: https://lnkd.in/gupCkqtR Dr. Eggington ran out of time to share what stakeholders can do about the issues presented, so if you would like to learn more, please reach out to us directly. #ELEVATEGENETICS #PrecisionMedicine #PrecisionOncology #ClinicalGenetics #Genomics #RareDisease #NGS #NextGenerationSequencing #GCChat #FDA #CLIA #LaboratoryDevelopedTests #LDTs #MedicalMalpractice

Today our CEO will be giving a presentation through Stanford University's METRICS program. You're welcome to tune in: Stanford University METRICS International Forum Webinar: ?????????????? ???????????????? ???????????????? ???????????????? ?????? ????????????????: ?? ???????????? ???? ?????? ???????????????? ???????? ???????? ???????????????????????? ???????? ???????????? ?????????????????????? ?????? ???????????? ???????????????? ?????? ???????? ?????????????? “?????????????????? ????????????????” ???? ?????? ??????. Dr. Julie Eggington, Center for Genomic Interpretation ???????????????? ?? ??????, ????????. ???????? - ?????? ??????. Public Zoom link:?https://lnkd.in/g-W_-Vzd Zoom Password (if prompted):?402084 METRICS International Forum: https://lnkd.in/ggE-znq6 #ELEVATEGENETICS

The FDA will be hosting a webinar on May 14, 2024 to provide an overview of the finale rule regulating #LaboratoryDevelopedTests (#LDTs). They will only answer questions emailed to them by May 7th 2024, to [email protected]. Go to this link to get the webinar on your calendar: https://lnkd.in/etC3Kh9n When they hosted a webinar on the draft of this new rule so many people logged in that it blocked latecomers, so please login for the meeting early in case that happens again. #PrecisionMedicine #PrecisionOncology #Regulation