The next frontier for precision medicine: Pediatricians
Genomic testing, once reserved for rare or complex cases and ordered by specialists, is rapidly becoming a standard tool in pediatric care. The latest guidance from the American Academy of Pediatrics (AAP), released this year, recommends using exome and genome sequencing as a first-tier test for more children, particularly those with developmental delays and intellectual disabilities. More than one in three children with developmental delays, intellectual disabilities, or autism have an underlying genetic condition that can be found using genetic testing.
Given known genetic links to autism, pediatricians can now genomic insights right from the start, moving forward bringing answers and actionable next steps in a child's care journey. This shift is transforming how we diagnose, treat, and support kids with unexplained medical challenges.
Invest in science
Spun out of the National Institutes of Health (NIH), GeneDx was founded 25 years ago on the belief that genomic science could fundamentally change how we diagnose and treat disease. At the time, this field felt like the frontier, a promising but distant future, more exploration than clinical applications.
Today, that vision is a reality. GeneDx has discovered more than 500 links between specific genes and diseases. What once felt futuristic is now central to modern pediatric care. Genomic testing has become faster, more affordable, and more accessible. The updated AAP guidance means genomic testing should be integrated into every family's pediatric office. It should be used to diagnose rare diseases and understand the genetic cause of common conditions like autism and epilepsy with greater speed and precision. It's not just about understanding the root cause, it's about accelerating the path to accurate treatment that can change or save children's lives.
This transformation didn't happen overnight. It was the result of decades of scientific investment—our collective bet on the future of healthcare—to one day ensure children live longer and healthier lives. That investment paid off. Genomic testing not only improves outcomes for patients and families, but it also reduces overall healthcare costs through fewer unnecessary tests and procedures, earlier diagnoses, and more targeted interventions and treatments.
Continued investments in science and medicine are essential. Advancing access to genomic testing isn't just about what's possible today, it's about building a healthcare system that's smarter, more sustainable, and truly patient-centered.
Why genomic testing matters
What was once only available to few, is now broadly available. Genomic testing offers immediate and profound benefits for families. For children facing developmental delays or other unexplained health issues, a single test can sometimes reveal the underlying cause in weeks or even days, in critical situations. This means families no longer must endure months or sometimes years of uncertainty—with multiple rounds of inconclusive tests, uninformative specialist visits, or unnecessary medical bills and suffering. Instead, clear answers can arrive quickly, allowing everyone to move forward with personalized treatment plans in confidence.
With a genetic diagnosis in hand, doctors can provide truly targeted care, tailoring treatments, therapies, and support to fit the unique needs for a diagnosis and in some cases, even stop disease progression. A confirmed diagnosis also opens doors to early intervention, specialized care teams, clinical trials, and support networks that might otherwise remain out of reach. Exome and genome testing are transforming the path to answers and support for children and their families, and now it's more accessible than ever before.
Looking ahead
We see the AAP's guidance as a major milestone, bringing genomics into everyday pediatric care. And for the first time, genomics is equipping pediatricians with critical insights to support early diagnosis and intervention. But this is just the beginning.
We're still in the early chapters of what genomic science and care can unlock. To fully realize its potential, we must continue investing in innovation and driving progress that elevates the standard of care across every clinical setting. Where a child accesses care should never determine their outcome.
Today, we see genomic insights shaping the future in pediatricians' offices. Tomorrow, we envision a world where every baby's genome is sequenced at birth, giving families the power to stop disease before symptoms even start.
My career has been dedicated to expanding access to genomic testing, and I commend the AAP for helping pave the way toward a new standard of care, one where genomics plays a central role in improving pediatric health outcomes nationwide. The path to answers—and to hope—has never been more accessible. Bringing genomics into the hands of every pediatrician marks a critical step toward shortening the diagnostic journey for families, enabling earlier intervention, and reducing costs for both patients and the healthcare system. It's a meaningful advancement in pediatric care, and one that brings us closer to a future where children can be diagnosed before symptoms even begin.
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Sarepta Therapeutics Provides Statement on ELEVIDYS
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This guides every decision we make, as evidenced by our conservative decision to pause shipments of ELEVIDYS for non-ambulant patients while we work with the FDA to update the label and evaluate the use of an enhanced immunosuppression regimen to mitigate the risk of acute liver failure. Based on our comprehensive scientific interpretation of the data, which shows no new or changed safety signals in the ambulant patient population, we will continue to ship ELEVIDYS to the ambulant population. We look forward to continued discussions and sharing of information with FDA in order to advance our shared purpose of protecting patient safety and informed access to care. We recognize that the death of any patient is heartbreaking, including the recent death of a 51-year-old non-ambulant Limb-Girdle Muscular Dystrophy (LGMD) patient. We also want to clarify that this tragic event occurred in a Phase 1 clinical trial for an investigational gene therapy called SRP-9004. SRP-9004 is a clinical stage therapy that is intended to treat a different disease (LGMD Type 2D), is administered using a different dose, and is manufactured using a different process. The LGMD study participant who passed away was not treated with ELEVIDYS, and the dosing for the SRP-9004 trial had concluded at the time of his death. Additionally, in a timely manner, Sarepta reported this ALF event as a life-threatening case to FDA on June 20, 2025, and further followed up with notification to FDA of the death on July 3, 2025, in accordance with applicable law and our commitment to full regulatory transparency. ELEVIDYS is the only approved gene therapy for individuals devastated by Duchenne, a rare, progressive and ultimately fatal disease. We are committed to working closely with the FDA to ensure that all decisions are grounded in science and the best interests of patients, considering the compelling need of these families to access disease-modifying therapy. About ELEVIDYS (delandistrogene moxeparvovec-rokl)ELEVIDYS (delandistrogene moxeparvovec-rokl) is a single-dose, adeno-associated virus (AAV)-based gene transfer therapy for intravenous infusion designed to address the underlying genetic cause of Duchenne muscular dystrophy – mutations or changes in the DMD gene that result in the lack of dystrophin protein – through the delivery of a transgene that codes for the targeted production of ELEVIDYS micro-dystrophin in skeletal muscle. ELEVIDYS is indicated for the treatment of Duchenne muscular dystrophy (DMD) in individuals at least 4 years of age. For patients who are ambulatory and have a confirmed mutation in the DMD gene For patients who are non-ambulatory and have a confirmed mutation in the DMD gene. The DMD indication in non-ambulatory patients is approved under accelerated approval based on expression of ELEVIDYS micro-dystrophin in skeletal muscle. Continued approval for this indication may be contingent upon verification and description of clinical benefit in a confirmatory trial(s). IMPORTANT SAFETY INFORMATION CONTRAINDICATION: ELEVIDYS is contraindicated in patients with any deletion in exon 8 and/or exon 9 in the DMD gene. WARNINGS AND PRECAUTIONS:Infusion-related Reactions: Infusion-related reactions, including hypersensitivity reactions and anaphylaxis, have occurred during or up to several hours following ELEVIDYS administration. Closely monitor patients during administration and for at least 3 hours after the end of infusion. If symptoms of infusion-related reactions occur, slow, or stop the infusion and give appropriate treatment. Once symptoms resolve, the infusion may be restarted at a lower rate. ELEVIDYS should be administered in a setting where treatment for infusion-related reactions is immediately available. Discontinue infusion for anaphylaxis. Acute Serious Liver Injury: Acute serious liver injury has been observed with ELEVIDYS, and administration may result in elevations of liver enzymes (such as GGT, GLDH, ALT, AST) or total bilirubin, typically seen within 8 weeks. Patients with preexisting liver impairment, chronic hepatic condition, or acute liver disease (e.g., acute hepatic viral infection) may be at higher risk of acute serious liver injury. Postpone ELEVIDYS administration in patients with acute liver disease until resolved or controlled. Prior to ELEVIDYS administration, perform liver enzyme test and monitor liver function (clinical exam, GGT, and total bilirubin) weekly for the first 3 months following ELEVIDYS infusion. Continue monitoring if clinically indicated, until results are unremarkable (normal clinical exam, GGT, and total bilirubin levels return to near baseline levels). Systemic corticosteroid treatment is recommended for patients before and after ELEVIDYS infusion. Adjust corticosteroid regimen when indicated. If acute serious liver injury is suspected, consultation with a specialist is recommended. Immune-mediated Myositis: In clinical trials, immune-mediated myositis has been observed approximately 1 month following ELEVIDYS infusion in patients with deletion mutations involving exon 8 and/or exon 9 in the DMD gene. Symptoms of severe muscle weakness, including dysphagia, dyspnea, and hypophonia, were observed. Limited data are available for ELEVIDYS treatment in patients with mutations in the DMD gene in exons 1 to 17 and/or exons 59 to 71. Patients with deletions in these regions may be at risk for a severe immune-mediated myositis reaction. Advise patients to contact a physician immediately if they experience any unexplained increased muscle pain, tenderness, or weakness, including dysphagia, dyspnea, or hypophonia, as these may be symptoms of myositis. Consider additional immunomodulatory treatment (immunosuppressants [e.g., calcineurin-inhibitor] in addition to corticosteroids) based on patient's clinical presentation and medical history if these symptoms occur. Myocarditis: Acute serious myocarditis and troponin-I elevations have been observed following ELEVIDYS infusion in clinical trials. If a patient experiences myocarditis, those with pre-existing left ventricle ejection fraction (LVEF) impairment may be at higher risk of adverse outcomes. Monitor troponin-I before ELEVIDYS infusion and weekly for the first month following infusion and continue monitoring if clinically indicated. More frequent monitoring may be warranted in the presence of cardiac symptoms, such as chest pain or shortness of breath. Advise patients to contact a physician immediately if they experience cardiac symptoms. 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About Sarepta Therapeutics Sarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold a leadership position in Duchenne muscular dystrophy (Duchenne) and are building a robust portfolio of programs across muscle, central nervous system, and cardiac diseases. For more information, please visit or follow us on LinkedIn, X, Instagram and Facebook. Forward-Looking Statements This statement contains "forward-looking statements." Any statements that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believe," "anticipate," "plan," "expect," "will," "may," "intend," "prepare," "look," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include, without limitation, statements relating to our future operations, research and development programs, clinical trials, ELEVIDYS, and expected plans, including our plan to continue to ship ELEVIDYS to the ambulant population and continued discussions and sharing of information with FDA in order to advance our shared purpose of protecting patient safety and informed access to care. Actual results could materially differ from those stated or implied by these forward-looking statements as a result of such risks and uncertainties. Known risk factors include the following: our products or product candidates may be perceived as insufficiently effective, unsafe or may result in unforeseen adverse events; our products or product candidates may cause undesirable side effects that result in significant negative consequences following any marketing approval; different methodologies, assumptions and applications we use to assess particular safety or efficacy parameters may yield different statistical results, and even if we believe the data collected from clinical trials are positive, these data may not be sufficient to support approval by the FDA or other global regulatory authorities; success in clinical trials, especially if based on a small patient sample, does not ensure that later clinical trials will be successful, and the results of future research may not be consistent with past positive results or with advisory committee recommendations, or may fail to meet regulatory approval requirements for the safety and efficacy of product candidates; we may not be able to comply with all FDA requests in a timely manner or at all; the possible impact of regulations and regulatory decisions by the FDA and other regulatory agencies on our business; and those risks identified under the heading "Risk Factors" in our most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by the Company, which you are encouraged to review. Any of the foregoing risks could materially and adversely affect the Company's business, results of operations and the trading price of Sarepta's common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained herein. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof, except as required by law. Internet Posting of Information We routinely post information that may be important to investors in the 'For Investors' section of our website at We encourage investors and potential investors to consult our website regularly for important information about us. Source: Sarepta Therapeutics, Inc. View source version on Contacts Investor Contact: Ian Estepan617-274-4052iestepan@ Media Contacts: Tracy Sorrentino617-301-8566tsorrentino@ Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
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Post readers react to elite's aim to create ‘super-babies'
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Here are some of the best reader reactions, which have been lightly edited for length and clarity and are printed with permission. Jessica Orlando, 37 Los Angeles ' I am coming at this question from a different perspective, having gone through IVF to combat infertility, and we now have an amazing son who is 19 months old. Our journey was different from many in that we went through four rounds of egg retrievals and embryo selections, but none made our doctor's cut for transplantation based on genetic testing given that the ones that made it each had what were considered genetic abnormalities. I personally reached my end point of doing more retrievals so we decided to transfer two abnormal embryos, asking our doctor to use the best quality that were available, and one of them grew into our son. He's wonderful and perfect in our eyes — no health issues or abnormalities and has an amazing personality and disposition. If we had followed our doctor's advice, he wouldn't exist today. ' Maggie Cooper, 43 Arlington, Virginia ' I am a carrier for cystic fibrosis (and have a mild form of the disease that presents in my lungs/sinuses), so my husband did genetic testing to see if he also was a carrier. While CF is not quite the early death sentence it used to be, it was not something we felt comfortable knowingly passing to a child. Thankfully he was not a carrier. Nine years ago, while I was pregnant with our first daughter, my husband was diagnosed with Stage 3 oligodendroglioma — a rare brain cancer. He had brain surgery and underwent radiation and chemo and, while there is no remission for this type of cancer, he has had no recurrence. He was adamant that we not have another child until his doctors could determine if his cancer was hereditary. After participating in natural history studies at NIH for many years, his doctors felt very confident that his cancer was not linked to genetics. We had our second daughter (via IVF) in summer 2023. ' Brenda Feeney, 79 Leesburg, Virginia ' I'm torn. Having a child which would never develop a terrible disease (Parkinson's, MS, etc.) would be wonderful. However, a little like playing god. Only the wealthy will be able to do this, so is their gene pool better than the rest of our? Most of the wealthy individuals we must endure today are cruel, vile and inhumane. Do we want more of these people? ' Paul Ojanen, 61 Duluth, Minnesota ' If you narrow selection over time, no matter what, you select for other unknown traits. As usual they are applying their very narrow field ... algorithms and computability ... to a process that needs randomness for long-term success. Eventually they'll succeed in what they want, a 'purebred' lineage, but with all types of unforeseen problems, just like purebred dogs. ' (Camille Cohen/For The Washington Post) Jann Becker, 70 St. Louis ' We chose to adopt in part because I have bipolar disorder and substance abuse, both of which run in my father's family, that I didn't wish to pass on. Choosing to bear only the embryo(s) without a known problem is, to me, the most ethical choice for people who know there's a hereditary disease in their family that would seriously impact a future child's life. If all the women in a given generation used that process for a disease like, say, Huntington's, could be eliminated for that family — but that means all of those women would need to accept their own test results and undergo an invasive medical procedure before becoming pregnant. ' Anca Vlasopolos, 76 Centerville, Massachusetts ' These extraordinarily ignorant people know nothing about genetics and the bell curve. Geniuses do not have genius children. People on the lower IQ scale may have a very intelligent child. But the white-supremacy myth driving these attempts is merely what it is=racism. ' Justin Wilson, 36 Silver Spring, Maryland ' I love it! Knew the idea/process would eventually become a thing. It's concerning that so many of you think this is bad. Is it just envy? Irrational fear of technology? Something that could lead to a healthier population is undeniably a good thing in my book. ' Judy Pelowski, 66 Red Oak, Texas ' At my age, I'm not having any babies. However, I believe there's something to be said for natural selection. They've said for years that mongrel dogs are healthier than purebreds. … Are you really going to eliminate anyone who doesn't have a high enough intelligence level or might one day die? What if, during their lifespan, the low-intelligence individual can see things others can't or has strength the others don't have and saves someone? What if the unhealthy child is a genius? Who's going to do all the work that the designer babies can't do? Testing for terrible deformities or diseases that would not allow the child to make it more than a short time after birth, and only in a very pained way, yes. Testing that saves a person a life of pain, yes. Vanity testing? Are you sure you want to go that way? ' Chris Strohbeck, 67 Reston, Virginia ' I find it ironic that these so-called risk takers are so obsessed with eliminating any and all risk, whether perceived or not, whether scientifically supported or not. I am not in their age cohort, but it occurs to me that one of the most concerning aspects of advanced technology (AI topping the list) accelerated by young adults is that these entrepreneurs don't have enough perspective. It's not always true that age comes with wisdom, but time spent living a life does broaden your experience base, sharpen your decision-making, and develop your moral thinking. ' Francesca A., 78 Oakland, California ' I became pregnant in 1986 after six years of trying various methods because of infertility. Because of my infertility, I was advised to wait and have an amnio rather than have a chorionic villus sampler test due to the risk of aborting the fetus in the latter test. Well, it turned out that my amniocentesis revealed our baby had the Trisomy 18 defect. Would pre-pregnancy genetic testing have indicated this as a possible risk? Obviously, in our case, finances would've been a factor, but I would never want to have to go through a late-term therapeutic abortion at almost 7 months again. ' Mary Redmond, 62 Philadelphia ' Prospective parents are 'rolling the dice,' like it or not. That's axiomatic from a genuinely scientific (Darwinian) perspective. These experts are con artists who add to the uncertainty. An old-fashioned fortune teller or astrologer might provide more 'value.' '
