INCIDENTAL FINDINGS

Diagnostic Testing
with Genomic Unity®

Information about optional incidental findings

ACMG SF v3.0

The American College of Medical Genetics and Genomics (ACMG) recommends reviewing and reporting pathogenic and expected pathogenic variants in a list of 73 genes1. They have recommended this list because the genes are related to conditions that are “actionable”, meaning that there are steps that can be taken to mitigate the onset or severity of the clinical outcome.

Patients for whom our Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Exome Analysis test is ordered have the choice to opt-in to receive pathogenic and expected pathogenic findings in these genes. Variants of uncertain significant (VUS) will not be reported.

Cancer related

GeneCondition
APCFamilial adenomatous polyposis
RETFamilial medullary thyroid cancer
BRCA1, BRCA2, PALB2Hereditary breast and/or ovarian cancer
SDHD, SDHAF2, SDHC, SDHB, MAX, TMEM127Hereditary paraganglioma–pheochromocytoma syndrome
BMPR1A, SMAD4Juvenile polyposis syndrome
TP53Li–Fraumeni syndrome
MLH1, MSH2, MSH6, PMS2Lynch syndrome
MEN1Multiple endocrine neoplasia type 1
MUTYH*MUTYH-associated polyposis
NF2Neurofibromatosis type 2
STK11Peutz–Jeghers syndrome
PTENPTEN hamartoma tumor syndrome
RB1Retinoblastoma
TSC1, TSC2Tuberous sclerosis complex
VHLvon Hippel–Lindau syndrome
WT1WT1-related Wilms tumor

Cardiac and/or blood vessel related

GeneCondition
 FBN1, TGFBR1, TGFBR2,SMAD3, ACTA2 , MYH11 Aortopathies
PKP2, DSP, DSC2, TMEM43, DSG2Arrhythmogenic right ventricular cardiomyopathy
RYR2, CASQ2, TRDNCatecholaminergic polymorphic ventricular tachycardia
TNNT2, LMNA, FLNC, TTNDilated cardiomyopathy
COL3A1Ehlers–Danlos syndrome, vascular type
LDLR, APOB, PCSK9Familial hypercholesterolemia
MYH7, MYBPC3, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, MYL2Hypertrophic cardiomyopathyh
KCNQ1, KCNH2Long QT syndrome types 1 and 2
SCN5ALong QT syndrome 3; Brugada syndrome

Genes related to inborn errors of metabolism phenotypes

GeneCondition
BTD*Biotinidase deficiency
GLAFabry disease
OTCOrnithine transcarbamylase deficiency
GAA*Pompe disease

Others

GeneCondition
HFE**Hereditary hemochromatosis
ACVRL1, ENGHereditary hemorrhagic telangiectasia
RYR1, CACNA1SMalignant hyperthermia
HNF1AMaturity-onset diabetes of the young
RPE65*RPE65-related retinopathy
ATP7B*Wilson disease

*Will be reported only if two likely pathogenic and/or pathogenic variants are identified (homozygous or compound heterozygous state). 
**HFE p.Cys282Tyr homozygous only

Genes other than the ACMG SF v3.0

There are additional genes that are not part of the ACMG’s recommended set, but are similar in that they have some associated actionability that could impact medical management and decision making. 

Patients for whom our Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Exome Analysis test is ordered also have the choice to opt-in to receive pathogenic and expected pathogenic findings in these genes. Variants of uncertain significant (VUS) will not be reported. For more information, read more in our  ACMG blog post.

For more information about unavoidable versus optional incidental findings in general, read our related post “Unavoidable versus optional incidental findings: What you need to know“.

References

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) Genetics in Medicine ; https://doi.org/10.1038/s41436-021-01172-3

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