Rare Disease | Genetic Testing Baby Rowan’s seizures mystified his doctors until genetic testing revealed their source and led his family to a life-changing community Baby Rowan The first 18 hours of Rowan’s life were uncomplicated. His parents, Michael and Amber, held him, nursed him, and marveled at the new life they’d welcomed into the world. Rowan’s doctors wanted to keep an eye on a couple of things, nothing too concerning, so they asked the family to stay another day in the hospital. His blood sugar was low, his head was a little puffy, and his arms periodically shook. During that f ..read more

Huntington’s Disease | Genetic Counseling Facing Huntington’s Disease with the help of one genetic counselor Genetic Counselor Andrea Gainey (right) with her nominator, Susan McGann (left) Written by Susan McGann nominating Andrea Gainey, MS, LCGC, UCONN Health Huntington’s Disease Program, Farmington, Connecticut, for The Heart of Genetic Counseling Award I have known my husband, James, and his family since 1970, when we met in college. At the time, we did not know Huntington’s disease (HD) was in his family. We got married, had kids, and then found out his mother had HD. James’s fa ..read more

Rare Disease | Genetic Counseling Patient advocacy defined: Leslie Cyprych Leslie Walsh Cyprych (right) with Tracy Fisher (left) and her daughter, Brie (front) Written by Tracy Fisher, nominating Leslie Walsh Cyprych, MS, MPH, CGC, Children’s Hospital of Pittsburgh, Pittsburgh, PA, for The Heart of Genetic Counseling Award If you were to ask me the definition of advocacy, it wouldn’t be a description. It would be one word: Leslie. I have never met such a professional and knowledgeable person in our daughter’s journey. When it comes to navigating the healthcare system, Leslie can lite ..read more

Rare Disease | Genetic Counseling A family’s experience with a rare disease and a genetic counselor’s support Genetic Counselor Victoria (right) with Kara (left), her husband, Tom, and children Thomas and Nolan Written by Kara Boulter, nominating Victoria Suslovitch, MS, CGC, Ambry Genetics (previously with Boston Children’s Hospital) for The Heart of Genetic Counseling Award My 5-year-old son, Nolan, has a rare disease called KCNQ2 developmental epileptic encephalopathy. Nolan has many struggles due to this diagnosis; in addition to seizures, he is non-verbal, non-ambulatory, and depende ..read more

Breast Cancer | Genetic Testing This Breast Cancer Awareness Month, learn how encouraging all patients to undergo hereditary cancer genetic testing can help improve the course of their care Breast cancer is the most common cancer diagnosed worldwide.¹ With more than 2.26 million new breast cancer cases in women* in 2020 alone,¹ its global impact on patient healthcare is undeniable. Meanwhile, expanding knowledge is paving the way for a paradigm shift in breast cancer risk assessment and management. Genetic testing has emerged as a transformative tool to support early identification ..read more

Rare Disease | Real Stories Ryan decided to use his rare disease diagnosis to reach out, connect, and help others cope with paroxysmal kinesigenic dyskinesia Ryan was living a typical teenage life with his parents when the world stopped during COVID-19. Like other teenagers, he was getting used to virtual school and limited interactions — until something unusual happened. Ryan started to get uncontrollable tremors and spasms on the right side of his body that seemed to come out of nowhere. Ryan recalls when he started noticing symptoms. “It first started happening in the summer of 2 ..read more

Ovarian Cancer | Genetic Testing This Ovarian Cancer Awareness Month, Invitae shares how hereditary cancer genetic testing is underutilized in ovarian cancer care Patients with an inherited predisposition to ovarian cancer may face serious threats to their health and well-being — and their family’s. An individual’s risk depends on many factors, including their genetics. That’s why hereditary cancer genetic testing is a vital tool for providers to inform patient care.¹ ² As a result, guidelines recommend that all ovarian cancer¹ ² patients undergo hereditary cancer genetic testi ..read more

Prostate Cancer | Genetic Testing This Prostate Cancer Awareness Month, Invitae looks at how you may be missing important genetic insights for your prostate cancer patients Prostate cancer affects millions of individuals worldwide.¹ But routine preventive options can help patients navigate care before a late-stage diagnosis. In observance of Prostate Cancer Awareness Month this September, Invitae shares how healthcare providers can use crucial genetic insights to inform care for their prostate cancer patients. Understanding the genetics of prostate cancer All cancers stem from ..read more

Cancer | Genetic Testing Discover the role of genetic testing in understanding your hereditary cancer risk to aid in health planning with your doctors. Cancer is a complex disease influenced by many factors. Like a puzzle, your risk involves different pieces, including your family’s genetics. Not all cancer cases run in families, but understanding your genetic makeup — those pieces that make you, you — can provide crucial insights into your risk of developing certain types of cancer. Genetic testing can help find changes in your DNA (genetic variants) that may increase your ris ..read more

Artificial Intelligence | Genetic Testing AI chatbots: Informing patients of their hereditary cancer risk and expanding access to critical genetic testing A study shows that technology can potentially transform hereditary cancer risk assessment and preventive healthcare. In healthcare, technology has continually advanced to help improve patient care. One notable development is the integration of artificial intelligence (AI) in healthcare systems, including the use of chatbots. These digital health tools can potentially transform how patients receive and engage with healthcare servic ..read more