Advances in genetic sequencing technology has led to an exponential growth in DNA testing options for patients. But has access to genetic health information kept pace? With a little help from the Internet and some government health agencies, the answer is yes.
While there are a lot of websites dedicated to teaching genetics – all covering Mendel and his peas – this may not be what you need to help your patients. So where should healthcare providers go for accurate, patient friendly, medical information about genetic testing and genetic conditions? Two sites in particular come to mind – Baby’s First Test and Genetic Home Reference. Both provide peer-reviewed, dated, referenced and more importantly, relevant information about genetic conditions.
Baby’s First Test (http://babysfirsttest.org/newborn-screening/screening-101) is a website developed with funding from the Genetic Services Branch of the Maternal and Child Health Bureau of the Health Resources and Services Administration. The website contains information about the importance of newborn screening and disease specific factsheets (http://www.babysfirsttest.org/newborn-screening/conditions). The factsheets are available in both English and Spanish and cover a wide range of metabolic disorders covered by the Baby Genes testing panel.
Genetics Home Reference (https://ghr.nlm.nih.gov) is a website developed by U.S. National Library of Medicine and provides consumer-friendly information about genes and genetic disorders. You can search for information by disorder name or by gene and find factsheets on both. All content has been developed by experts in genetics who perform a comprehensive review of the conditions and gene summaries before they are posted to the website. Each disorder page contains a basic description of the disorder, the frequency, the associated gene and links disease specific support groups and other pertinent websites. All information is written at a level that should be understandable by most people. While this site doesn’t discuss Mendel and his peas, it does contain a genetics primer – Help Me Understand Genetics (https://ghr.nlm.nih.gov/primer) – that covers topics related to understanding human genetics with basic explanations of genetic concepts and illustrations.
Both of these websites are great sources of accurate, relevant genetic information and should help you address your patients questions regarding Baby Genes testing and results.