Personal Genome Screening for Healthy Adults
with Genomic Inform®


Popular direct-to-consumer tests look at only 0.01% of your DNA. Using whole genome sequencing (WGS), Genomic Inform® looks at more than 98% of your DNA. The result is a significantly more complete analysis of your DNA. Including a more complete analysis of disease risk variants for conditions identified by the Centers for Disease Control and Prevention (CDC) as important genome screening applications. As well as other, less frequently screened for disease risks.

Hereditary breast and ovarian cancer

Individuals with certain harmful variants have a significantly increased risk of developing breast and/or ovarian cancer over the course of their lifetime. A risk (for breast cancer) that can be addressed in part through earlier and more frequent mammograms. The most popular direct-to-consumer test screens for only 3 BRCA1/BRCA2 variants: BRCA1 5382insC, BRCA1 185delAG and BRCA2 6174deIT. Hundreds of other harmful variants are not considered, including the hard-to-detect BRCA1 ex9-12del variant that occurs in a significant number of breast cancer patients of some ethnicities, as well as variants in other genes. Both of which we detect.

Familial hypercholesterolemia

Individuals with familial hypercholesterolemia have a significantly increased risk of developing early coronary artery disease. Studies have shown that early diagnosis and treatment of familial hypercholesterolemia can bring the risk of coronary artery disease down to the level of the general population, but many affected individuals do not know that they’re at risk. The most popular direct-to-consumer test screens for only 24 variants in the LDLR and APOB genes. We identify many additional harmful variants in these plus the PCKS9 gene which is also important for familial hypercholesterolemia.

Hereditary nonpolyposis colorectal cancer

Individuals with hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, are at a significantly increased risk of developing colon cancer – oftentimes below the age of 50. Women with hereditary nonpolyposis colorectal cancer are also at an increased risk of developing endometrial and/or ovarian cancer. Early and frequent colonoscopies in at risk individuals can help lower the chance of developing or dying from colon cancer. The most popular direct-to-consumer test does not screen for harmful hereditary nonpolyposis colorectal cancer variants, but we do.

Other disorders

Many other common disorders can be influenced by genetics, but they are not regularly screened for by direct-to-consumer tests. With its comprehensive analysis, Genomic Inform® looks at variants that can lead to an increased risk of:

  • Venous thrombosis
  • Myocardial infarction
  • Inflammatory bowel disorders like ulcerative colitis and Crohn’s disease
  • Polycystic kidney disease

As well as many more.

Based on whole genome sequencing (WGS) technology, Genomic Inform® provides comprehensive analysis of variants that confer an increased risk of developing these and many other conditions.

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If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

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