Dr Sue Richards
The focus of my clinical research laboratory is development of sequence-based testing for rare disorders, custom array analysis to address copy number variants, and multiple next generation sequencing (NGS) panels, as well as translation of these products into clinical practice.
I have a long-standing history of clinical translation of sequence-based tests for rare genetic disorders, including colorectal cancer and rare cancer disorders, such as Fanconi anemia, as well as neuromuscular disorders. In collaboration with Dr. Susan Hayflick at OHSU we developed clinical testing for pantothenate kinase-associated neuropathy and infantile neuroaxonal dystrophy as well as other genes associated with brain iron accumulation. While these clinical tests currently utilize Sanger technology, efforts are underway to develop NGS panels for Fanconi anemia genes, inherited cancer genes, and brain iron accumulation genes using Ion Torrent.
For rare disorders that require sequence analysis, additional technologies are required to assess copy number variants. We are developing custom microarray analysis to compliment our sequence analysis of rare disorders, syndromes associated with multiple genes, and inherited cancer genes.
Current research projects of my laboratory include development and assessment of pharmacogenetic testing. In particular, we are collaborating with Kaiser investigators on an NCI-funded project to assess efficacy of CYP2D6 genotyping breast cancer patients for predicting response to tamoxifen. In addition, we are piloting a project aimed at genotypingCYP2C19 stent recipients to assess efficacy of response to clopidogrel (plavix).
Nationally, I am actively engaged in contributing to quality assurance of genetic testing through development of standards and guidelinesas well as a methods-basedproficiency testing program for laboratories sequencing genes of rare disorders.
Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love DR, Su L-K, Lynch P, Snow K, Richards CS . Detection of sequence variations in the Adenomatous Polyposis Coli ( APC ) gene using denaturing high-performance liquid chromatography. GeneticTesting 5(4 ) :281-290, 2002.
Hegde M, Lewis RA, Richards CS . Diagnostic testing for X-linked ocular albinism (X-OA1) with a hierarchical mutation screening protocol. Genetic Testing 6(1):7-14, 2002.
Hegde M, Blazo M, Odenbaugh D, Richards C . Assay validation for identification of HNPCC-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 . J Mol Diag . 2005 Oct;7(4):525-34.
Hegde M, Blazo M, Chong B, Chin LHE, Ward PA, Chintagumpala MM, Kim JY, Ayala G, Plon SE, Richards CS. A homozygous mutation in MSH6 causes Turcot Syndrome. Clin Cancer Res. 2005 Jul 1;11(13):4689-93.
Richards CS and Hegde MR. Familial Adenomatous Polyposis. In:Encyclopedia of Genomics, Proteomics and Bioinformatics. M. Dunn, L. Jorde, P. Little, S. Subramaniam, eds., B. Korf (section editor), John Wiley & Sons, UK (2005)/
Johnson M, Yoshitomi M, Richards CS . A Comparative Study of Five Technologically Diverse CFTR Testing Platforms . Journal of Molecular Diagnostics 2007, Vol. 9, No. 3, 401-407.
Grody WW, Richards CS . New quality assurance standards for rare disease testing. Genet Med. 2008 May;10(5):320-4.
Richards CS , Bale S , Bellissimo DB , Das S , Grody WW , Hegde MR , Lyon E , Ward BE, Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr;10(4):294-300.
Nabil N. Moghrabi, Monique A. Johnson, Xiaoman Zhu, Muhsen Al-Dhalimy, Susan Olson, Markus Grompe, C. Sue Richards. Validation of Fanconi Anemia Group A Subtyping Using an Integrated Strategy for Rapid and Comprehensive FANCA Molecular Analysis and Identification of Novel FANCA Mutations. Genetics in Medicine 11(3) March 2009.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group ( CS Richards , panel member) Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? Genet Med. 2009 Jan;11(1):15-20.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. ( CS Richards , panel member) Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.Genet Med. 2009 Jan;11(1):35-41.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. ( CS Richards , panel member) Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer?Genet Med. 2009 Jan;11(1):66-73.