Drug Response; Therapeutic management

Additional information about the RightMed test can be obtained by visiting the OneOme website: http://oneome.com or by calling 844-663-6635.

Guidance for selecting a drug therapy and/or dose

Psychiatric patients

SNP genotyping by real-time PCR and CYP2D6 copy number analysis by qPCR.

Nobel alleles are confirmed by bi-directional Sanger sequencing or high-resolution typing (HLAs only).

The RightMed Mental Health test interrogates the following variants: rs28371706 NM_000106.5:c.320C>T rs1065852 NM_000106.5:c.100C>T rs1135840 NM_000106.5:c.1457G>C rs16947 NM_000106.5:c.886C>T rs3892097 NM_000106.5:c.506-1G>A rs769258 NM_000106.5:c.31G>A rs5030862 NM_000106.5:c.124G>A rs201377835 NM_000106.5:c.181-1G>C rs5030867 NM_000106.5:c.971A>C hCV32407220 NM_000106.5:c.1411_1412insTGCCCACTG rs5030656 NM_000106.5:c.841_843delAAG rs35742686 NM_000106.5:c.775delA rs72549353 NM_000106.5:c.765_768delAACT rs5030655 NM_000106.5:c.454delT rs774671100 NM_000106.5:c.137_138insT rs1080985 NM_000106.5:c.-1584C>G rs59421388 NM_000106.5:c.1012G>A rs28371725 NM_000106.5:c.985+39G>A rs72549346 NM_000106.5:c.1088_1089insGT rs5030865 NM_000106.5:c.505G>[A,T] rs267608319 … The RightMed Mental Health test interrogates the following variants: rs28371706  NM_000106.5:c.320C>T  rs1065852  NM_000106.5:c.100C>T  rs1135840  NM_000106.5:c.1457G>C  rs16947   NM_000106.5:c.886C>T  rs3892097  NM_000106.5:c.506-1G>A  rs769258  NM_000106.5:c.31G>A  rs5030862  NM_000106.5:c.124G>A  rs201377835  NM_000106.5:c.181-1G>C  rs5030867  NM_000106.5:c.971A>C  hCV32407220  NM_000106.5:c.1411_1412insTGCCCACTG  rs5030656  NM_000106.5:c.841_843delAAG  rs35742686  NM_000106.5:c.775delA  rs72549353  NM_000106.5:c.765_768delAACT  rs5030655  NM_000106.5:c.454delT  rs774671100  NM_000106.5:c.137_138insT  rs1080985  NM_000106.5:c.-1584C>G  rs59421388  NM_000106.5:c.1012G>A  rs28371725  NM_000106.5:c.985+39G>A  rs72549346  NM_000106.5:c.1088_1089insGT  rs5030865  NM_000106.5:c.505G>[A,T]  rs267608319  NM_000106.5:c.1319G>A  rs79292917 NM_000106.5:c.975G>A rs2740574  NM_017460.5:c.-392G>A  rs35599367  NM_017460.5:c.522-191C>T  rs776746  NM_000777.4:c.219-237G>A  rs10264272  NM_000777.4:c.624G>A  rs41303343  NM_000777.4:c.1035_1036insT  rs9923231  NM_001311311.1:c.-1639G>A  rs7200749 NM_001311311.1:c.442C>T rs4680   NM_000754.3:c.472G>A  rs1799978  NM_000795.3:c.-585A>G  rs3813929  NM_000868.3:c.-759C>T  rs7997012  NM_000621.4:c.614-2211T>C  rs1954787  NM_001282470.2:c.83-10039T>C  rs762551  NM_000761.4:c.-9-154C>A  rs2069514  NG_008431.2:g.28338G>A  rs2069526  NM_000761.4:c.-10+103T>G  rs12720461  NM_000761.4:c.-10+113C>T  rs35694136  NM_000761.4:c.-1635delT  rs3745274  NM_000767.4:c.516G>T  rs3211371  NM_000767.4:c.1459C>T  rs28399499  NM_000767.4:c.983T>C  rs2279343  NM_000767.4:c.785A>G  rs12248560  NM_000769.2:c.-806C>T  rs4244285  NM_000769.2:c.681G>A  rs4986893  NM_000769.2:c.636G>A  rs6413438  NM_000769.2:c.680C>T  rs28399504  NM_000769.2:c.1A>G  rs7900194  NM_000771.3:c.449G>A  rs1799853  NM_000771.3:c.430C>T  rs1057911  NM_000771.3:c.1425A>T  rs1057910  NM_000771.3:c.1075A>C  rs28371686  NM_000771.3:c.1080C>G  rs56165452  NM_000771.3:c.1076T>C  rs28371685  NM_000771.3:c.1003C>T  rs9332131  NM_000771.3:c.817delA  rs25531   NM_001045.5:c-1936A>G  rs774676466  NM_001045.5:c.-1917_-1875del43  rs12777823 NC_000010.10:g.96405502G>A HLA00097 NM_002116 (interrogated at exon 2) rs144012689 NM_005514.7:c.1012+104A>T HLA00386 NM_005514 (interrogated at exon 2, intron 2) HLA00381 NM_005514 (interrogated at exon 3) View more
For additional details regarding allele coverage, visit https://oneome.com/coverage#gene-table.

Tests performed
Entire test performed in-house

Test performance comments
The RightMed test is performed by OneOme: 807 Broadway Street NE Minneapolis, MN 55413 For other services, such as annotation-only reporting, please inquire.

Analytical validity was assessed for all genes using anonymized donor samples and DNA from previously characterized cell lines. Donor samples were compared for concordance with bi-directional Sanger sequence results (100% concordance). Cell line DNA samples were compared for concordance with reference results obtained through 1000 Genomes Project, with broad concordance … Analytical validity was assessed for all genes using anonymized donor samples and DNA from previously characterized cell lines. Donor samples were compared for concordance with bi-directional Sanger sequence results (100% concordance). Cell line DNA samples were compared for concordance with reference results obtained through 1000 Genomes Project, with broad concordance (100%). For additional details, visit https://oneome.com/products#test View more

The test does not detect all known and unknown variations in the gene(s) tested, nor does absence of a detectable variant (designated as *1 for genes encoding drug metabolizing enzymes) rule out the presence of other, non-detected variants. As with other common SNP genotyping techniques, these assays cannot differentiate between … The test does not detect all known and unknown variations in the gene(s) tested, nor does absence of a detectable variant (designated as *1 for genes encoding drug metabolizing enzymes) rule out the presence of other, non-detected variants. As with other common SNP genotyping techniques, these assays cannot differentiate between the maternal and paternal chromosomes. In cases where observed variants are associated with more than one haplotype, OneOme infers and reports the most likely diplotype based on published allele frequency and/or ethnicity data. Inferences with potential clinical impact are reported in the Report and laboratory comments section. The variant detection methods validated by OneOme provide >99.9% accuracy; however, PCR may be subject to general interference by factors such as reaction inhibitors and low quality or quantity of extracted DNA. When present, these interferents typically yield no result rather than an inaccurate one. Very infrequent variants or polymorphisms occurring in primer- or probe-binding regions may also affect testing and could produce an erroneous result or assay failure. Variant locations tested by the assay but not assigned a genotype call are reported as “No Call.” Test results and clinical interpretation may be inaccurate for individuals who have undergone or are receiving non-autologous blood transfusions, tissue, and/or organ transplant therapies. Although extremely rare, results could also be impacted by other factors not addressed above, such as laboratory error. Due to the complexity of interpreting some genetic test results, such as those that may carry a probabilistic risk of disease, patients and providers should consider the benefits of consulting with a trained genetic counseling professional, physician, or pharmacogenomic specialist. For additional support, contact OneOme through the website or by calling 844-663-6635. View more

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
OneOme incorporates a robust proficiency testing program for all genes tested, including participation in formal programs (e.g. CAP MGL and PGX) as well as inter-lab and intra-lab proficiency testing programs carried out in accordance with CAP and CLIA guidelines.

Description of internal test validation method: Help
Clinical tests offered at OneOme are analytically validated using commercially available reference materials, anonymized donor samples, and/or synthetic DNA constructs. Accuracy is assessed using published reference results and/or orthogonal method comparison with gold-standard genotyping method, such as bi-directional sanger sequencing.