President's Corner - Whole Genome Sequencing Variant Files for Decision Support
About two years ago, I met with some leaders of a large Midwestern healthcare system. I gave them my standard pitch about the value of clinical whole genome sequencing (WGS). They responded with the usual “that’s nice” words, but then one bright woman asked, “but what will we do with the data?” Super question, which I will address here and in upcoming posts.
The last thing many people want to think about is their own mortality, which often leaves their families to deal with funeral planning, expenses and, sometimes, unresolved medical decisions. They turn to you as a resource in their time of grief. As a funeral director, your interaction with families during a time of loss is their last opportunity to preserve a loved one’s DNA.
Inherited kidney diseases have an overall prevalence of ~6-8 in 10,000 births in the United States and Europe, and accounts for up to 37% of adults with renal diseases (Cocchi et al. 2020. PubMed ID: 32646915; Connaughton et al. 2019. PubMed ID: 30773290; Lata et al. 2018. PubMed ID: 29204651). Obtaining an early diagnosis for kidney disease is important for establishing optimal maintenance and treatment plans for patients and their families, which is why genetic testing has been increasingly integrated into clinical practice.
Early detection and diagnosis of Congenital Heart Defects (CHDs) is essential to guide patient care. Survival and medical care for children with CHDs are improving. Among states with mandatory CHD screening via pulse oximetry, a 33.4% reduction of early infant deaths due to CHD was observed (Abouk et al., 2017). Initial diagnosis is only the beginning. Genetic testing for CHD also plays an important role in improving outcomes.
PreventionGenetics selected to join Concert Genetics’ Preferred Laboratory Network
MARSHFIELD, Wis. –With more than 150,000 genetic tests available, at least 6.9 codes per claim and thousands of medical policies1,2, it’s virtually impossible for providers and payers to keep up with the complex and ever-changing world of genetic testing. Today, PreventionGenetics joins Concert Genetics’ Preferred Laboratory Network, which brings health plans and preferred laboratories together to ensure that the quality, pricing and service information needed for decision-making is at the forefront and eases the administrative burden involved in insurance claims processing for genetic testing.