Profile

Holly K. Tabor, PhD

Holly K. Tabor, PhD

Bioethics

Children's Title: Treuman Katz Center for Pediatric Bioethics

Academic Title: Associate Professor, Division of Bioethics, Department of Pediatrics; Adjunct Assistant Professor, Department of Bioethics and Humanities and Department of Genome Sciences, University of Washington School of Medicine

Research Center: Center for Clinical and Translational Research

Holly K. Tabor, Ph.D., is an associate professor of pediatrics in the Division of Bioethics at University Washington School of Medicine and the Treuman Katz Center for Pediatric Bioethics, and an adjunct associate professor in the Department of Bioethics and Humanities and the Department of Genome Sciences at the University of Washington.

She earned her Ph.D. in epidemiology, with a minor in genetics, at Stanford University School of Medicine. She was a Senior Scientist at the Stanford Human Genome Center, leading a group conducting candidate gene research on complex traits. She completed her postdoctoral training in bioethics at the Stanford Center for Biomedical Ethics, in the Center for the Research on Integration of Genetics and Ethics. She was the recipient of a K99/R00 Pathway to Independence award from the National Human Genome Research Institute (NHGRI) at NIH on "Ethical and Social Issues in the Study of the Genetics of Complex Traits," as well as a R01 as part of the NHGRI Clinical Sequencing Exploratory Research Consortium on "Innovative Approaches to Returning Results in Exome and Genome Sequencing Studies."

She conducts research on ethical issues in genetic research, specifically issues in exome and whole genome sequencing and in pediatric genetic research. Current projects include studies of best practices for informed consent and return of results for exome and whole genome sequencing and genotype driven recontact. She is also conducting studies characterizing the perspectives of parents and adolescents across different contexts of pediatric genetic research about ethical and social issues. She also acts as an "integrated bioethicist" for several large scale genomic sequencing projects, including the UW Centers for Mendelian Genomics.

Making a Difference

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Overview

Research Description

Dr. Tabor conducts research on ethical issues in genetic research, specifically issues in exome and whole genome sequencing and in pediatric genetic research. Current projects include studies of best practices for informed consent and return of results for exome and whole genome sequencing and genotype driven recontact. She is also conducting studies characterizing the perspectives of parents and adolescents across different contexts of pediatric genetic research about ethical and social issues. She also acts as an "integrated bioethicist" for several large scale genomic sequencing projects, including the UW Centers for Mendelian Genomics.

Research Focus Area

Behavioral / Mental Health

Publications

  • Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ
    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay.
    25683120 American Journal of Human Genetics , 2015 Mar. 5 : 96(3)462-73
  • Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP
    Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
    25637381 Genome Research , 2015 Mar. : 25(3)305-15 PMCID: PMC4352885
  • Delgado F, Tabor HK, Chow PM, Conta JH, Feldman KW, Tsuchiya KD, Beck AE
    Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.
    25232848 Genetics in Medicine , 2014 Sept. 18
  • Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA, NHLBI Exome Sequencing Project, Bamshad MJ
    Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
    25087612 American Journal of Human Genetics , 2014 Aug. 7 : 95(2)183-93 PMCID: PMC4129409
  • McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ
    Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
    24726473 American Journal of Human Genetics , 2014 May 1 : 94(5)734-44 PMCID: PMC4067551
  • Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JP, Peters U, Robinson JG, Sucheston LE, Wang D, Sotoodehnia N, Rotter JI, Psaty BM, Jackson RD, Herrington DM, O'Donnell CJ, Reiner AP, Rich SS, Rieder MJ, Bamshad MJ, Nickerson DA, NHLBI GO Exome Sequencing Project
    Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.
    24282029 Human Molecular Genetics , 2014 Apr, 15 : 23(8)1957-63 PMCID: PMC3959810
  • Yudell M, Tabor HK, Dawson G, Rossi J, Newschaffer C, Working Group in Autism Risk Communication and Ethics
    Priorities for autism spectrum disorder risk communication and ethics.
    22917844 Autism : the international journal of research and practice , 2013 Nov. : 17(6)701-22
  • Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP
    Actionable, pathogenic incidental findings in 1,000 participants' exomes.
    24055113 American Journal of Human Genetics , 2013 Oct. 3 : 93(4)631-40 PMCID: PMC3791261
  • Genetics in Medicine
    Self-guided management of exome and whole-genome sequencing results: changing the results return model
    Genetics in Medicine , 2013 Sept. : 15(9)684-90
  • Holly K. Tabor, PhD
    Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing
    American Journal of Medical Genetics Part A , 2013 May : 161(5)1064-72
  • Holly K. Tabor, PhD
    Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications
    American Journal of Medical Genetics Part A , 2013 Apr, 22 : 161(5)935-50
  • Holly K. Tabor, PhD
    Mutations in KCTD1 cause scalp-ear-nipple syndrome
    American Journal of Human Genetics , 2013 Apr, 4 : 92(4)621-26
  • Holly K. Tabor, PhD
    Non-invasive Fetal Genome Sequencing: Opportunities and Challenges
    American Journal of Medical Genetics Part A , 2012 Aug. : 158A(10)2382-84
  • Holly K. Tabor, PhD
    Exome Sequencing of Extreme Phenotypes Identified DCTN4 as a Modifier of Chronic Pseudomonas Aeruginosa Infection in Cystic Fibrosis
    Nature Genetics , 2012 July 8 : 44(8)886-89
  • Holly K. Tabor, PhD
    Non-invasive whole-genome sequencing of a human fetus
    Science Translational Medicine , 2012 June 6 : 4(137)137ra76
  • Holly K. Tabor, PhD
    Informed Consent for Whole Genome Sequencing: A Qualitative Analysis of Participant Expectations and Perceptions of Risks, Benefits, and Harms
    American Journal of Medical Genetics Part A , 2012 June : 158A(6)1310-19
  • Holly K. Tabor, PhD
    Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment
    Journal of empirical research on human research ethics : JERHRE , 2011 Dec. : 6(4)41-52
  • Holly K. Tabor, PhD
    Genomics Really Gets Personal: How Exome and Whole Genome Sequencing Challenge the Ethical Framework of Human Genetics Research
    American Journal of Medical Genetics Part A , 2011 Dec. : 155A(12)2916-24
  • Tabor
    Research Participants Perspectives on Genotype-driven Research Recruitment
    Journal of empirical research on human research ethics : JERHRE , 2011 Dec. : 6(4)3-20
  • Holly K. Tabor, PhD
    Exome sequencing as a tool for Mendelian disease gene discovery
    Nature Reviews Genetics , 2011 Sept. 27 : 12(11)745-55
  • Holly K. Tabor, PhD
    The Autism Genetic Resource Exchange: Changing Pace, Priorities and Role in Discovery Science in Achieving Justice in Genome Translation: Rethinking the Pathway to Benefit
    Oxford University Press , 2011 Sept. : 56-71
  • Tabor
    Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    American Journal of Medical Genetics Part A , 2011 July : 155A(7)1511-16
  • Holly K. Tabor, PhD
    Bioethical Considerations in Autism Research and Translation: Present and Future in Autism Spectrum Disorders
    Oxford University Press , 2011 June : 1337-44
  • Tabor HK, Kelley M
    Challenges in the use of direct-to-consumer personal genome testing in children.
    19998111 The American journal of bioethics : AJOB , 2009 : 32-4

Presentations

Presentations Title Event Location Date
Ethics and genetic testing in chidlren: who gets to know what, when and why Westgate Pediatric Ethics Forum, Children's Minneapolis Minneapolis, MN Nov. 14, 2014
My46 and self-directed results management: operationalizing choice for return of results from exome and whole genome sequencing American Society of Bioethics and Huamnities Annual Meeting San Diego, CA Oct. 16, 2014
The integrated ethicist: a genomics/ELSI perspective American Society of Bioethics and Humanities Annual meeting San Diego, CA Oct. 16, 2014
Beyond All of None: Return of Secondary Results from Exome and Whole Genome Sequencing Tenth Annual Seattle Children's Pediatric Bioethics Conference Seattle, WA July 19, 2014
Beyond All or NOne: Achieving Autonomy, Benefit and Empowerment in Return of Secondary Results Precision Medicine, Personal Genomes and Pharmacogenomics Mtg, Cold Spring Harbor Laboratory Cold Spring Harbor, NY Nov. 15, 2013
Exome and whole genome sequencing in neonates: using the genome as a resource American Society of Bioethics and Humanities Annual Meeting Atlanta, CA Oct. 27, 2013
Individual expectations for return of secondary results from exome sequencing American Sociaty of Human Genetics Annual Meeting Boston, MA Oct. 25, 2013
We're Not in Kansas Anymore: Pediatric Genetic Information in the Exome/Whole Genome Sequencing Era Ninth Annual Seattle Children's Pediatric Bioethics Conference Seattle, WA July 19, 2013
Genomic Autonomy and Empowerment: Self-management of Genomic Results in Research and Clinical Care Task Force on Neonatal Genomics Seminar, Duke Institute for Genome Sciences and Policy, Duke University Durham, NC May 10, 2013
My46: An Innovative Web-based Approach to Managing Results HudsonAlpha Seminar Series, HudsonAlpha Institute for Biotechnology Huntsville, AL Nov. 28, 2012
Analysis of ESP 6500 Exomes for Results of Clinical Utility American Society of Human Genetics Annual Meeting San Francisco, CA Nov. 9, 2012
Analysis of ESP 6500 Exomes for Results of Clinical Utility American Society of Human Genetics Annual Meeting San Francisco, CA Nov. 9, 2012
My46: An Innovative Web-based Approach to Managing ES/WGS Results American Society of Human Genetics Annual Meeting San Francisco, CA Nov. 7, 2012
My46: An innovative web-based approach to managing ES/WGS results American Society of Human Genetics Annual Meeting San Francisco, CA Nov. 7, 2012
The Genome as a Resource: Self-directed Results Management in Genome Sequencing Studies NHGRI Sequencing Network Meeting Houston, TX Oct. 2, 2012
A Feasibility Study of Human Whole Genome Sequencing in the National Childrens Study: Return of Results National Childrens Study (NCS) Expanded Steering Committee Meeting Bethesda, MD Feb. 13, 2012
Innovative Approaches to Informed Consent and Return of Results from Exome and Whole Genome Sequencing Genomics and Randomized Trials Network (GARNET) Study Steering Committee meeting Washington, DC Dec. 14, 2011
Innovative Approaches to Informed Consent and Return of Results for Exome and Whole Genome Sequencing. University of California San Diego Institute for Genomic Medicine 2011 Symposium San Diego, CA Oct. 24, 2011
Consent and Return of Results from Whole Genome and Exome Sequencing Personal Genomes Meeting Cold Spring Harbor, NY Oct. 1, 2011
Understanding Ethical Implications of Genetic Testing and Research NIH Workshop: Ethical Legal and Social Implications of Autism Research, Interagency Autism Coordinating Committee Bethesda, MD Sept. 26, 2011
Ethical Challenges and Sociocultural Dimensions of Emerging Genomic Analyses: Data from Recent Studies of Exome/WGS ELSI 2011 Congress: Exploring the ELSI Universe Chapel Hill, NC April 14, 2011
Informed Consent and Return of Results from a Whole Genome Sequencing Study ELSI 2011 Congress: Exploring the ELSI Universe Chapel Hill, NC April 13, 2011
Ethical Implications of Return of Results in Pediatric Exome and Whole Genome Sequencing Studies; ELSI 2011 Congress: Exploring the ELSI Universe Chapel Hill, NC April 13, 2011
A Feasibility Study of Human Whole Genome Sequencing in the National Childrens Study: Return of Results National Childrens Study (NCS) Expanded Steering Committee Meeting Bethesda, MD Feb. 13, 2011

Research Funding

Grant Title Grantor Amount Award Date
Innovative Approaches to Communication and Dissemination of Genetic Testing Results: Characterizing Parent Perspectives on Patient-Centered Outcomes Resarch Seattle Children's Research Institute/Center for Clinical and Translational Research Oct. 1, 2014 - Sept. 30, 2015
CSER RoRC Centralized Support Coordinating Center NIH/NHGRI March 1, 2013 - Feb. 28, 2017
UW Center for Mendelian Genetics NIH/NHGRI Dec. 1, 2011 - Nov. 30, 2015
Innovative Approaches to Returning Results in Exome and Genome Sequencing Studies NIH/NHGRI Sept. 30, 2011 - Aug. 31, 1201
Center for Genomics and Health Care Equality NIH/NHGRI April 1, 2010 - March 31, 2015
Ethical and Social Issues in the Study of the Genetics of Complex Traits NIH/NHGRI Sept. 23, 2008 - Feb. 28, 2013