genetic testing

Genetic testing initiative for inherited retinal diseases shows great promiseI have been encouraged as a retinal specialist with all the excitement and promising new treatments in gene therapy. Given that there are several retinal diseases with known inherited patterns and confirmed genetic loci responsible for the clinical manifestations, our field is primed to benefit from the expansion of knowledge in this arena.
Six diseases reap benefits of biomarkers, genetic tests
Six diseases reap benefits of biomarkers, genetic testsBiomarker testing for harmful genetic mutations provides the opportunity to identify at-risk individuals who might benefit from risk modification strategies and/or enhanced disease screening.
Genetic testing: Two downsides to considerGenetic testing holds great promise, but there are some critical drawbacks to consider.
Six ways precision medicine is improving care
Six ways precision medicine is improving careHere are some of the latest precision medicine approaches being used by managed care organizations, health systems and academic medical centers across the U.S.
Independence Blue Cross president: Why we cover whole genome sequencingAfter carefully considering its promise and consulting with experts, Independence Blue Cross this year became the first major insurer to provide coverage for certain members who are seeking access to whole genome sequencing.
Vanishing twin syndrome affects NIPT resultsClinicians should be aware of the potential for confounding of NIPT results by cfDNA released from a vanishing twin.
Expanded carrier screening: Are you prepared?
Expanded carrier screening: Are you prepared?Expanded screening answers questions that were unanswerable in the past, but brings with it new uncertainties.
Scientists gain new insight into UV-exposure geneticsXeroderma pigmentosum is a rare disease that leads to early skin cancer. New insights may lead to better prevention and survival for patients, as well as point to ways that UV-resistant gene functions could be used for skin cancer prevention and treatment.
Consider family history of glaucoma before genetic testing, counselingThough genetic testing can identify some types of glaucoma, risk assessment and counseling based on family history is more helpful for most patients than genetic testing, said Wallace L.M. Alward, MD.
Risk Factors for Melanoma and Genetic TestingWhile one German study has shown that population-wide screening for melanoma could dramatically reduce mortality, potential problems with the strategy include cost due to the overall rarity of the disease, patient compliance, and difficulties identifying patients likely to develop melanoma. Therefore, scientists are developing prediction models to identify those at high risk for melanoma, which can include genetic factors. Learn more