When Melissa was getting ready to start a family, she wanted to know whether her child would carry the same genetic variant that she had – for a heart condition known as Long QT Syndrome. Thanks to a test called fetal magnetocardiography, Melissa was able to learn crucial information about her baby’s heart before she was even born.

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Advances in technology and medicine continue to change the way we define, detect, and treat genetic conditions. Millions of individuals are living with rare genetic conditions and up to 95% of them have limited or nonexistent FDA-approved treatments. However, there is hope on the horizon through in utero development of advanced technologies, such as gene therapy, stem cell transplant and enzyme replacement therapy. In the future, babies with genetic conditions may never experience any symptoms of their disease.

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In the ever-evolving field of healthcare, genetic counseling has emerged as a crucial service that helps individuals understand how genetic conditions might affect them and their families. Genetic counseling refers to the guidance provided by specialized healthcare professionals, known as genetic counselors, to people who may be at risk of genetic disorders. Genetic counseling is particularly beneficial for individuals and families who are planning for pregnancy, have a genetic test result they would like to learn more about, or those managing their own health in light of a family history of certain conditions. As the field of medicine continues to advance, the role of genetic counselors becomes increasingly integral in guiding patients through the complex landscape of genetics and health.

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There are more than 7,000 rare diseases affecting over 30 million Americans according to the National Organization for Rare Disorders (NORD por sus siglas en inglés). Many rare conditions and disorders are caused by changes in our genetic information and some of these genetic changes silently run through healthy families. People who are pregnant or considering pregnancy may explore genetic carrier screening to identify these silent genetic changes so they can make informed family planning decisions. Carrier screening is routinely offered, but many people aren’t aware of it and have questions. If you are considering carrier screening or are just curious about your options, here are some things to know and consider.

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Recent high-profile cases of sudden cardiac arrest are bringing attention to rare forms of hereditary heart disease this National Heart Month (February). However, you don’t need to be famous to learn and advocate for heart health.

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From newborn screening to cholesterol screening to mammograms and colonoscopies, most of us have been offered, or undergone, some type of health or medical screening during our lives. So, what exactly is genomic screening, and what is the difference between genetic testing and genomic screening?  

Screening tests find diseases or possible health conditions in people without symptoms. Their goal is to find people early so that lifestyle changes and/or earlier surveillance can be started to reduce the disease risk and/or treat it as early as possible. Screening tests are different from diagnostic tests, as they are not used to make an actual diagnosis in most cases, but instead are meant to find a specific subset of a population of people who should have additional testing to see if they do, or do not, actually have the condition in question.

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Genevie’s children have Long QT Syndrome (LQTS), a heart signaling disorder that can cause fast, chaotic heartbeats or arrhythmias, which was only discovered through genetic testing. Her youngest daughter had more severe symptoms of LQTS, and went through an extensive testing panel - which is how her husband learned he had LQTS Type 5.

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No two genetic counselors have the same role. This makes the genetic counseling profession exciting and full of possibilities. Our ongoing series, “I Am a Genetic Counselor,” shares diverse perspectives and stories from genetic counselors showcasing the variety of roles and the many experiences those in the field can have.

Hear first-hand stories from genetic counselors below to get a better idea of what it’s like to walk in their shoes and revisit this page as it will be updated with testimonials over time. Additionally, follow our social channels to receive updates. If you are a genetic counselor and are interested in sharing your career experience and perspective, please reach out to NSGC at NSGCPR@Pcipr.com to learn more.

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May is Mental Health Awareness Month, and mental health is playing an increasingly central role within health care. Genetic testing options and the results people may receive can leave people confused and concerned, and genetic counselors play an important part in not only providing insights on genetics but also advising patients on the mental and emotional aspects of testing and what they can do as far as next steps.

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