PreventionGenetics announces integration with FDNA's deep learning platform, Face2Gene to increase the diagnostic power of genetic testing
November 29, 2017, Marshfield, WI – PreventionGenetics today announces integration of their genetic testing and interpretation services with FDNA’s (www.fdna.com) Face2Gene suite of applications (www.face2gene.com).
The integration with Face2Gene increases the diagnostic power of PreventionGenetics’ genetic testing using artificial intelligence and computer vision technology, which highlights genetic variants that are highly correlated with disease and the patient’s clinical phenotype.
With the holidays around the corner, remember that some of the best gifts in life cannot be wrapped. Your patients plan for their family’s financial future by buying life insurance. Some have prepared a will in order to leave their assets to loved ones. These are things they can do on their own. As their healthcare provider, they need your help to plan for the future health of their whole family. Help them bank DNA to preserve their genetic legacy for future generations.
Genetic skeletal disorders are a clinically and genetically heterogeneous group that impair skeletal and joint function. This makes identifying the genetic cause especially challenging. Overall, genetic skeletal disorders can be divided into 42 groups comprising 436 disorders based on the nosology and classification of genetic skeletal disorders (Bonafe et al. 2015. PubMed ID: 26394607). While useful, the groupings are imperfect due to the inherent overlap in radiological and clinical features of many of these disorders. With this in mind, PreventionGenetics’ comprehensive panel was designed to maximize clinical sensitivity to achieve a molecular diagnosis for patients with clinically suspicious skeletal abnormalities and joint problems.
PreventionGenetics offers a wide variety of genetic testing for inherited metabolic disorders, also known as inborn errors of metabolism. Panels specific to one disorder are available, as well as large panels that cover broader phenotypic features or groups of similar disorders, including, for example, tests for hyperammonemia(37 genes); metabolic hypoglycemia (22 genes); and metabolic myopathies, rhabdomyolysis, and exercise intolerance (59 genes). Over the past year, we’ve begun offering several new tests related to these disorders, and many of our existing panels have been updated to include more genes and increase clinical sensitivity.
Observing Pregnancy and Infant Loss Awareness Month
Pregnancy and infant losses affect women and families every day. The prevalence of these tragic losses led President Ronald Reagan to designate October as National Pregnancy and Infant Loss Awareness Month in 1988. Miscarriages are both common and distressing complications of early pregnancy, occurring in 15% of clinically recognized pregnancies. The majority of miscarriage losses occur early; however, 2-3% are in the second trimester (Van den Berg et al., 2012; Hardy and Hardy, 2015). Stillbirths occur in approximately 1 in 160 pregnancies in the United States and unknown causes remain the most common contributor (Wou et al., 2014). Neonatal death affects approximately 4 million babies worldwide out of the estimated 130 million infants born each year. The majority of these deaths occur within the first week, with the first 24 hours being the most common time of loss (Jehan et al., 2009).