PreCISE is an affordable deep sequencing test designed by the Englander Institute for Precision Medicine (EIPM) for detecting clonal hematopoiesis and major germline cancer & cardiovascular risk alleles.
PreCISE-1
Test for both inherited and acquired risks of cancer and cardiovascular disease, including clonal hematopoiesis. |
What is PreCISE-1?
PreCISE-1 is a next generation sequencing (NGS) test developed by the Englander Institute for Precision Medicine to enable the development of a “total genetic risk portrait” from blood. This portrait includes both acquired and inherited genetic risks of cancer and cardiovascular disease in patients. Approximately 100 genes are interrogated. PreCISE-1 is currently the core technology of the Institute’s Molecular Aging Initiative.
Who would use PreCISE-1?
This test is powered by the Englander Institute of Precision Medicine genomics platform thus facilitating rapid deployment of clonal hematopoiesis clinics as well as mosaicism and germline testing studies.
What acquired risks are tested?
Somatic mutations associated with clonal hematopoiesis (CH) and hematologic malignancies are tested. High risk presentations of CH can include mutations present at variant allele fractions (VAF) as low as 1%. PreCISE-1 is optimized for detecting these mutations.
Example genes: DNMT3A, TET2, ASXL1, TP53, FLT3, NPM1, IDH1, and IDH2.
What inherited risks are tested?
We test both coding regions and non-coding SNPs in genes associated with the risk of development of solid tumors, hematologic malignancies, and cardiovascular disease. Additionally, PreCISE-1 can detect mosaicism in these genes.
Example genes: BRCA1, BRCA2, APC, RUNX1, CEBPA, APOB, LDLR, LPL
What type of samples are suitable?
Genomic DNA, peripheral blood, bone marrow aspirate.
Is a buccal swab or wash required?
It is not required. However, DNA from a buccal swab or wash can be used to clarify whether certain rare large clone size (>40% VAF) presentations clonal hematopoiesis are somatic or germline.
Can PreCISE-1 be used to make clinical decisions?
Not yet. It is currently research use only. Clinical deployment is anticipated in 2020.
For more information please contact Pinkal Desai, M.D., our Molecular Aging Institute’s Clinical Director.