New studies: Genetic testing for cancer risk assessment
Invitae | Perspectives in Genetics
by Invitae®
1w ago
Breast Cancer | Genetic Testing More research supports the benefits of genetic testing for breast cancer risk Genetic tests for inherited cancer risk look at gene changes that may directly inform healthcare decisions. They can help you consider risk-reducing measures like more frequent screenings. And for people who already have a cancer diagnosis, it can help inform treatment, including surgical strategy and the potential use of targeted therapies. You might remember how, in 2013, Angelina Jolie brought widespread attention to how a genetic test helped her make proactive decisions ..read more
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Neuromuscular disorders and genetic testing
Invitae | Perspectives in Genetics
by Invitae®
1M ago
Neuromuscular Disorders | Genetic Testing Navigating neuromuscular diagnoses with genetic testing may lead to better treatment Genetic testing can bridge the gap between uncertainty and informed proactive care in neuromuscular disorders, where every moment counts. This shift in approach is transformative, offering new hope and possibilities. By finding a genetic basis for the neuromuscular disorder, healthcare providers may be able to do more than alleviate symptoms. They can consider interventions to help target the underlying cause. Neuromuscular disorders like Duchenne muscular dystro ..read more
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New eMERGE IV study and genetic health risk assessments
Invitae | Perspectives in Genetics
by Invitae®
1M ago
eMERGE IV | Genetic Testing A new study explores how adding genetic information to personal health risk assessments could improve healthcare Using a patient’s family history and clinical risk factors to evaluate their chances of developing a disease is common healthcare practice, but it’s not always enough. Assessments based on these factors alone might miss more than three-quarters of affected patients.¹ Innovative research from the eMERGE network aims to improve population health by creating a more comprehensive personal health risk assessment using genetics. Such efforts could influen ..read more
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Integrating genetic testing into EHR systems | Invitae
Invitae | Perspectives in Genetics
by Invitae®
2M ago
EHR systems | Genetic testing Invitae explores the potential of EHR integration in simplifying genetic testing workflows In today’s digital healthcare landscape, electronic health records (EHRs) are the central hub for storing, managing, and accessing protected health information (PHI). Unlike electronic medical records (EMRs) focusing on patient care and information exchange within a single practice, EHRs cover a broader range of PHI between healthcare organizations, providers, and partners. Efficient EHR workflows are essential for streamlining clinical processes, enhancing care coordi ..read more
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Rowan’s patient story: Rare condition genetic testing
Invitae | Perspectives in Genetics
by Invitae
5M ago
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
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Andrea's Huntington's Disease Genetic Counseling impact
Invitae | Perspectives in Genetics
by Invitae
9M ago
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
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Leslie’s Heart of Genetic Counseling Patient Advocacy
Invitae | Perspectives in Genetics
by Invitae
9M ago
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
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Heart of a Genetic Counseling Winner’s impact on family
Invitae | Perspectives in Genetics
by Invitae
9M ago
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
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Importance of genetic testing: Breast cancer awareness
Invitae | Perspectives in Genetics
by Invitae
10M ago
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
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Ryan’s patient story: Coping with PKD – Rare disease
Invitae | Perspectives in Genetics
by Invitae
10M ago
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
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