Genetic screening of 65 thousand people – results after 1st year

The project is carried out in the US’ Pennsylvania and New Jersey, where regional health provider Gelsinger has facilities. In just one year, 255 thousand people signed consent to participate, 174 thousand provided blood and saliva samples, and 65 thousand genomes were analyzed “for clinical relevance”. The methods are not disclosed, but probably rely on genotyping.

Similar to other large scale projects of genetic screens, less than 2% of participants received clinically relevant results. According to the summary, among detected variants there were:

  • 374 individuals: breast/ovarian cancer risk (BRCA1, BRCA2 genes)
  • 203: hemochromatosis (HFE)
  • 173: Lynch syndrome (PMS2, MSH2, MSH6, MLH1)
  • 157: hypercholesterolemia (APOB, LDLR)
  • 138: arrhythmia (SCN5A, KCNQ1, KCNE1, KCNH2)
  • 104: cardiomyopathy (MYH7, MYBPC3, TPM1, TNNI3, TNNT2, MYL2, MYL3, LMNA)
  • 92: arrhythmogenic right venticular cardiomyopathy (DSP, PKP2, DSG2, DSC2)
  • 83: malignant hyperthermia (RYR1)
  • 41: multiple endocrine neoplasia type 2 (MEN1)
  • 32: pheochromocytomas and paragangliomas (SDHB, SDHC, SDHD, SDHAF2)
  • 20: thoracic aortic disease (ACTA2, SMAD3, TGFBR1)
  • 14: adenomatous polyposis (APC)
  • 13: Li-Fraumeni syndrome (TP53)
  • 12: Marfan syndrome (FBN1)
  • less than 10 individuals: multiple neoplasia type 1 (RET), hamartoma tumor syndrome (PTEN), tuberous sclerosis (TSC1, TSC2), Von Hippel-Lindau syndrome (VHL), retinoblastoma (RB1), Fabry disease (GLA), vascular Ehlers-Danlos syndrome (COL3A1), hemorrhagic telangiectasia (ENG), juvenile polyposis syndrome (SMAD4)
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