Genetic testing is increasingly used to help manage, predict, and prevent health concerns, such as cardiomyopathy, epilepsy or birth defects. Conditions like these may be due to changes within our genes called variants that cause the gene to not function properly. A technology called “gene sequencing” is often used to find these changes by reading through the genetic code and looking for variants that might be causing disease. Sequencing tests may involve checking a single gene, a specific list of genes (gene panel), sequencing critical parts of all genes (exome sequencing), or sequencing everything (genome sequencing). Interpreting what these variants mean can be challenging and may result in uncertain results, called variants of uncertain significance (VUS). When a VUS is reported, it means we do not have enough information to know whether the variant will cause the condition associated with the gene or not and that uncertainty can be difficult for some people. The more genes that are evaluated, the more likely it is that we will encounter a VUS. However, a genetic condition could be missed if too few genes are tested.
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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.
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.
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.
There are many pink ribbon displays and charity walks each year to support the many people diagnosed with breast cancer. Each year leads to more scientific advances and discoveries about how cancer develops and breakthroughs that may lead to more effective treatments. Genes have become an important predictor for how cancer may behave as well as for determining if family members may be at risk to develop cancer too.
According to the American Cancer Society, other than skin cancer, prostate cancer is the most common cancer in American men. In fact, 1 in 8 men will be diagnosed with prostate cancer in his lifetime. (ACS) What factors increase my risk for prostate cancer? Family history? What can I do?
The COVID-19 pandemic, racial uprisings, and the resulting economic recession have impacted many people’s mental health. One study suggests that ~4 in 10 adults in the U.S. have reported symptoms of anxiety or depressive disorder, up from ~1 in 10 adults before the pandemic.
It's not surprising that awareness efforts for hereditary breast cancer focus on the women in the family, but it's important not to leave the men out. Not only can men get breast cancer, their family health history holds important information to help relatives determine their cancer risk.