{"id":290668,"date":"2026-05-22T08:04:17","date_gmt":"2026-05-22T12:04:17","guid":{"rendered":"https:\/\/rarediseases.org\/?p=290668"},"modified":"2026-05-22T10:08:06","modified_gmt":"2026-05-22T14:08:06","slug":"access-to-answers-bridging-the-gap-to-genetic-expertise","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/access-to-answers-bridging-the-gap-to-genetic-expertise\/","title":{"rendered":"Access to Answers \u2014 Bridging the Gap to Genetic Expertise"},"content":{"rendered":"

Congress is currently considering the Access to Genetic Counselor Services Act (H.R. 6280\/S. 3607)<\/strong>, a bipartisan piece of legislation that would recognize genetic counselors as Medicare providers, allowing them to be reimbursed under Medicare Part B. Passing this Act will allow genetic counselor services to be reimbursed by insurance similarly to other health care professionals, like nurse practitioners and physician assistants. Without reimbursement, many hospital departments and practices cannot afford to hire genetic counselors, thus limiting access. Right now, genetic counselors are not recognized as Medicare providers, restricting Medicare beneficiaries’ access to genetic counselor services.<\/p>\n

What is at stake for our community? Genetic counselors have a critical role in a rare disease patient\u2019s health care team. They empower patients with knowledge to make important health care decisions, and help patients avoid unnecessary testing, reduce health care costs, and advance prevention against future disease.<\/p>\n

The National Society of Genetic Counselors (NSGC)<\/a><\/strong> has united a coalition of over 450 academic medical centers, patient advocacy groups, and clinicians in support of this Act. This broad partnership reflects a shared recognition that genetic counselors are essential to managing complex health conditions; their expertise in genetics is vital to securing faster diagnoses and personalized treatment.<\/p>\n

Anyone can be impacted by a genetic condition, and everyone deserves the expertise of a qualified counselor to help them make informed medical decisions. Keep reading to learn more about how this legislation could empower patients, and how you can take action to support the Access to Genetic Counselor Services Act.<\/p>\n

Ashley\u2019s Story<\/span><\/span><\/strong><\/h3>\n

Ashley Castillo and her children live with a rare condition that requires expert genetic guidance.\u00a0<\/span>H<\/span>er journey highlights the gaps in\u00a0<\/span>the<\/span> health care system that often treat patients with a \u00abone-size-fits-all\u00bb approach rather than the individualized care\u00a0<\/span>required<\/span> for rare diseases. \"\"<\/span><\/span><\/p>\n

Ashley\u2019s struggle began during<\/span>\u00a0her son\u2019s infancy<\/span>,\u00a0<\/span>when maternal health care, newborn screening, and genetic counseling services\u00a0<\/span><\/span><\/span>were limited.<\/span>\u00a0<\/span>H<\/span>er son appeared healthy to doctors<\/span>,<\/span>\u00a0<\/span>and<\/span>\u00a0<\/span>Ashley\u2019s parental<\/span> concerns and family medical history were dismissed. This lack of proactive genetic assessment led to her son suffering a preventable health crisis at just 4 months old.\u00a0<\/span><\/span> <\/span><\/p>\n

Seeking answers, Ashley turned to a Certified Genetic Counselor who guided the family through targeted genetic testing, finally providing an accurate diagnosis.\u00a0Today, Ashley\u00a0advocates\u00a0for\u00a0all patients and families navigating complex health conditions<\/span>.\u00a0<\/span><\/b>She knows firsthand that genetic counseling is the key to proactive care. For Ashley\u2019s family,\u00a0genetic\u00a0counselors\u00a0helped\u00a0identify\u00a0opportunities\u00a0for early intervention and\u00a0individualized\u00a0medicine.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cIf there were greater emphasis on genetic risk factors, genetic testing, and counseling, I have no doubt in my mind my son’s lifelong, debilitating, complex health conditions could have been prevented,\u201d<\/span><\/b>\u00a0Ashley says.\u00a0<\/span>\u201cIt is time to ensure that the 1 in 10 Americans living with a rare disease can reach the experts they need.\u201d<\/span><\/b><\/p>\n

Paige\u2019s Story<\/span>\u00a0<\/span><\/strong><\/h3>\n

Paige\u00a0Williams, a Cincinnati resident and a former professional at a children’s hospital, was diagnosed with a rare\u00a0LMNA\u00a0gene\u00a0variant\u00a0that leads\u00a0to both limb-girdle muscular dystrophy<\/a><\/strong> and cardiomyopathy. For Paige, this\u00a0isn’t\u00a0just a diagnosis;\u00a0it\u2019s\u00a0a progressive battle that\u00a0she has dealt with\u00a0since 2023.<\/span><\/p>\n

\"\"<\/span><\/p>\n

The specialized\u00a0expertise\u00a0of a genetic counselor was the turning point in Paige\u2019s journey,\u00a0helping her understand\u00a0her\u00a0genetic test results\u00a0that\u00a0explain\u00a0her complex health issues.\u00a0With\u00a0an accurate\u00a0understanding of her\u00a0diagnosis thanks to a CGC, Paige was able to secure\u00a0Medicaid resources\u00a0that\u00a0provided\u00a0necessary\u00a0support,\u00a0including an electric wheelchair, home modifications, and a\u00a0caretaker.\u00a0Paige knows that many others are still struggling to find answers\u00a0because of barriers to\u00a0genetic\u00a0expertise.\u00a0<\/span>\u00a0<\/span><\/p>\n

Despite being homebound and managing the physical toll of multiple procedures, Paige has found a powerful new purpose in\u00a0advocacy.\u00a0Now,\u00a0she uses her background as a behavioral health therapist to\u00a0fight\u00a0legislative changes like the\u00a0Access to Genetic Counselor Services Act.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cMedicare must recognize genetic counselors as providers to ensure seamless billing and testing,\u201d<\/span><\/b>\u00a0Paige says.\u00a0<\/span>\u201cPatients\u00a0with cancer, cardiovascular, and neurological diseases will face delays in care, and their diseases will progress without\u00a0this important change.\u201d<\/span><\/b>\u00a0Paige\u2019s personal journey motivates her to advocate for the entire rare disease community, championing access to the expert\u00a0guidance that patients need to thrive.<\/span>\u00a0<\/span><\/p>\n

<\/h3>\n

Sofia\u2019s Story<\/span><\/span><\/strong><\/h3>\n

Driven by a passion to advocate for the rare disease community, Sofia Horan became a reproductive genetic counselor to bridge the gap between complex\u00a0genetic information\u00a0and patient care. As both a clinician and a\u00a0NORD\u00ae Rare Action Network\u00ae (RAN)<\/a> <\/strong>Ambassador, she has witnessed how the right information at the right time can alter a family’s trajectory.\u00a0<\/span> \"\"<\/span><\/p>\n

In her practice, Sofia sees how genetic testing connects rare disease families to early intervention, specialized medical teams, and critical support from the moment of birth. This early access is the key to minimizing the \u00abdiagnostic odyssey,\u00bb the years of uncertainty and misdiagnosis that many patients with complex health conditions endure before finding answers. <\/span>\u00a0<\/span><\/p>\n

Sofia supports the\u00a0<\/span>Access to Genetic Counselor Services Act<\/span><\/b>\u00a0because she recognizes that patients rely on the specialized\u00a0expertise\u00a0of genetic counselors to interpret complex results and\u00a0provide them with the information needed to make the best\u00a0decision\u00a0for their family.\u00a0<\/span>\u201cI have seen firsthand how vital access to genetic counseling is for my patients,\u201d<\/span><\/b>\u00a0Sofia says.\u00a0<\/span>\u201cBut without increased access to genetic counseling services, not all\u202fpatients are able to\u202fbenefit\u202ffrom genetic\u202ftesting. That is why the Access to Genetic Counselor Services Act is so crucial.\u201d<\/span><\/b> Sofia shares her perspective to\u00a0advocate for\u00a0a health care system that better supports the relationship between specialists and the families navigating\u00a0complex health conditions.\u00a0<\/span>\u00a0<\/span><\/p>\n

Take Action\u202f<\/span><\/b>\u00a0<\/span><\/h3>\n

On behalf of the more than 30 million Americans living with a rare disease, the National Organization for Rare Disorders (NORD\u00ae) is supporting the Access to Genetic Counselor Services Act (H.R. 6280\/S. 3607). We need your help to ensure that the nearly 1 in 10 Americans affected by rare diseases can access the specialized experts they need. Please join us by taking action today:\u202f\u202f<\/span>\u00a0<\/span><\/p>\n