J Genet Couns. 2019 Feb 1. doi: 10.1002/jgc4.1094. [Epub ahead of print]

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Grove ME¹, White S¹, Fisk DG¹, Rego S^2,³, Dagan-Rosenfeld O², Kohler JN⁴, Reuter CM^4,⁵, Bonner D⁴; Undiagnosed Diseases Network⁶, Wheeler MT^4,^5,⁷, Bernstein JA^4,⁸, Ormond KE², Hanson-Kahn AK^2,⁸.

Collaborators (197)

Adams DR, Aday A, Alejandro ME, Allard P, Ashley EA, Azamian MS, Bacino CA, Baker E, Balasubramanyam A, Barseghyan H, Batzli GF, Beggs AH, Behnam B, Bellen HJ, Bernstein JA, Bican A, Bick DP, Birch CL, Bonner D, Boone BE, Bostwick BL, Briere LC, Brokamp E, Brown DM, Brush M, Burke EA, Burrage LC, Butte MJ, Chen S, Clark GD, Coakley TR, Cogan JD, Colley HA, Cooper CM, Cope H, Craigen WJ, D'Souza P, Davids M, Dayal JG, Dell'Angelica EC, Dhar SU, Dipple KM, Donnell-Fink LA, Dorrani N, Dorset DC, Douine ED, Draper DD, Dries AM, Eckstein DJ, Emrick LT, Eng CM, Enns GM, Eskin A, Esteves C, Estwick T, Fairbrother L, Fernandez L, Ferreira C, Fieg EL, Fisher PG, Fogel BL, Gahl WA, Glanton E, Godfrey RA, Goldman AM, Goldstein DB, Gould SE, Gourdine JF, Groden CA, Gropman AL, Haendel M, Hamid R, Hanchard NA, High F, Holm IA, Hom J, Howerton EM, Huang Y, Jamal F, Jiang YH, Johnston JM, Jones AL, Karaviti L, Koeller DM, Kohane IS, Kohler JN, Krasnewich DM, Korrick S, Koziura M, Krier JB, Kyle JE, Lalani SR, Lau CC, Lazar J, LeBlanc K, Lee BH, Lee H, Levy SE, Lewis RA, Lincoln SA, Loo SK, Loscalzo J, Maas RL, Macnamara EF, MacRae CA, Maduro VV, Majcherska MM, Malicdan MCV, Mamounas LA, Manolio TA, Markello TC, Marom R, Martin MG, Martínez-Agosto JA, Marwaha S, May T, McConkie-Rosell A, McCormack CE, McCray AT, Merker JD, Metz TO, Might M, Moretti PM, Morimoto M, Mulvihill JJ, Murdock DR, Murphy JL, Muzny DM, Nehrebecky ME, Nelson SF, Scott Newberry J, Newman JH, Nicholas SK, Novacic D, Orange JS, Orengo JP, Carl Pallais J, Palmer CGS, Papp JC, Parker NH, Pena LDM, Phillips JA 3rd, Posey JE, Postlethwait JH, Potocki L, Pusey BN, Reuter CM, Rives L, Robertson AK, Rodan LH, Rosenfeld JA, Sampson JB, Samson SL, Schoch K, Scott DA, Shakachite L, Sharma P, Shashi V, Signer R, Silverman EK, Sinsheimer JS, Smith KS, Spillmann RC, Stoler JM, Stong N, Sullivan JA, Sweetser DA, Tan QK, Tifft CJ, Toro C, Tran AA, Urv TK, Vilain E, Vogel TP, Waggott DM, Wahl CE, Walley NM, Walsh CA, Walker M, Wan J, Wangler MF, Ward PA, Waters KM, Webb-Robertson BM, Westerfield M, Wheeler MT, Wise AL, Wolfe LA, Worthey EA, Yamamoto S, Yang J, Yang Y, Yoon AJ, Yu G, Zastrow DB, Zhao C, Zheng A.

Author information

1: Stanford Clinical Genomics Program, Stanford Health Care, Stanford, California.
2: Department of Genetics, Stanford University School of Medicine, Stanford, California.
3: Institute for Human Genetics, University of California-San Francisco, San Francisco, California.
4: Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.
5: Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford School of Medicine, Stanford, California.
6: NIH Undiagnosed Diseases Network, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
7: Department of Medicine, Stanford University School of Medicine, Stanford, California.
8: Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

Abstract

With the wide adoption of next-generation sequencing (NGS)-based genetic tests, genetic counselors require increased familiarity with NGS technology, variant interpretation concepts, and variant assessment tools. The use of exome and genome sequencing in clinical care has expanded the reach and diversity of genetic testing. Regardless of the setting where genetic counselors are performing variant interpretation or reporting, most of them have learned these skills from colleagues, while on the job. Though traditional, lecture-based learning around these topics is important, there has been growing need for the inclusion of case-based, experiential training of genomics and variant interpretation for genetic counseling students, with the goal of creating a strong foundation in variant interpretation for new genetic counselors, regardless of what area of practice they enter. To address this need, we established a genomics and variant interpretation rotation for Stanford's genetic counseling training program. In response to changes in the genomics landscape, this has now evolved into three unique rotation experiences, each focused on variant interpretation in the context of various genomic settings, including clinical laboratory, research laboratory, and healthy genomic analysis studies. Here, we describe the goals and learning objectives that we have developed for these variant interpretation rotations, and illustrate how these concepts are applied in practice.