• Adam, Shelin

    Titles
    Investigator, BC Children's Hospital

    Clinical Assistant Professor, Department of Medical Genetics, University of British Columbia
    Research Genetic Counsellor

    Degrees / Designations

    BSc.Biology, MSc. Genetic Counselling

    Primary Area of Research
    Evidence to Innovation
    Secondary Area(s) of Research
    Phone
    604-875-2000 ext. 6063
    Fax
    Lab Phone
    Assistant
    Liza Mak
    Assistant Phone
    604-875-2000 ext. 5626
    Mailing Address

    BC Children's Hospital
    4500 Oak Street, Room C328
    Vancouver, BC  V6H 3N1

    Affiliate Websites
    Research Areas
    • Clinical genomics
    • Genetic counselling
    • Patient and clinican education
    Summary

    I am a researcher genetic counsellor interested in the application of new genetic and genomic technocology. More specifically, I am interested in understanding the best ways to provide education, decision support and genetic counselling to families being offered genomic sequencing. Another area of my research is in helping clinicians to understand genomic testing and its implications.

    Current Projects

    The Friedman Lab, and I are interested in studying the introduction of new genetic and genomic technology years including Chromosomal Microarray, and Genomic Sequencing, and how it can best be used for the benefit of our patients and their families. 

    Through a number of different qualitative and quantitative research studies with various stakeholders involved in genome-wide sequencing, we have gained an understanding of the issues involved in families' decisions regarding genomic testing, and been involved in the establishment of guidelines for Canadian healthcare professionals in the offering of this test. As genetic counselling resources are scarce and non-genetics healthcare professionals often too busy or unable to adequately prepare families for the implications of genomic sequencing, we have developed  DECIDE, an online, interactive educational tool and decision-aid designed  to improve families’ understanding of issues surrounding genome-wide sequencing, and help support their choices. Use of such decision-aids has been shown to promote informed decisions that are consistent with the users’ values.  We are studying the efficacy and acceptability of DECIDE for families’ genomic testing decisions. We are also measuring the outcomes for those who choose genomic testing, including psychological benefit or burden, the impact on quality of life, empowerment, and the ability to adapt and cope for parents and other family members.

    I am also involved in CAUSES (Clinical Assessment of the Utility of Sequencing and Evaluation as a Service) clinic, which offers genomic sequencing to 500 patients with previously undiagnosed, but suspected to be genetic conditions. By identifying the underlying cause, this test can provide specific information about what to expect in the future and access to targeted therapies that can improve the health of these children with rare genetic diseases. This testing is not available as a clinical test for most patients in BC who need it, hence the goal of our research is to gather the evidence needed to transition this testing to a clinical service. The integrated multidisciplinary program includes a health economics study, assessment of the psychological and psychosocial impact of the testing process and research into various different modalities of offering patient education and genetic counselling including telehealth, an online decision aid and standard genetic counselling.

    I am also involved with members of the Division of Neurology in a project to use whole exome sequencing (WES) technology with analysis of a targeted panel of genes known to be associated with epilepsy, to provide a faster and more cost-effective mean of diagnosis and treatment in children with epilepsy of unknown cause. We will also be assessing the use of an on-line education and counselling tool to simplify the genetic counselling.

    Selected Publications

    1. Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM. “I want to know what’s in Pandora’s box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet A 158A(10):2519-25, 2012.

    2. Birch P and Friedman J.M. Quality of Life in NF1, chapter in NF1: Molecular and Cellular Biology (Upadhyahya M, Cooper D, editors). Springer-Verlag, Berlin Heidelberg 2012, pp93-104.

    3. Lohn Z, Adam S, Birch PH, Townsend A, Friedman JM. Genetics Professionals’ Perspectives on Reporting Incidental Findings from Clinical Genomic Sequencing. Am J Med Genet A 161(3): 542-0, 2013.

    4. Townsend A, Birch PH, Adam S, Friedman JM. Paternalism and the ACMG recommendations on genomic incidental findings: Patients seen and not heard. Genetics in Medicine 15(9):751-2, 2013.

    5. Townsend A, Rousseau F, Friedman JM, Adam S, Lohn Z, Birch P. Autonomy and the Patient’s right ‘not to know’ in whole genomic sequencing. European Journal of Human Genetics 22(1):6, 2014.

    6. C.L. Beaulieu, J. Majewski, J. Schwartzentruber,  M.E. Samuels, B.A. Fernandez, F.P. Bernier, M. Brudno, B. Knoppers, J. Marcadier, D. Dyment, S. Adam, D.E. Bulman, S.J.M. Jones, D. Avard, M. Nguyen, F. Rousseau, C. Marshall, R.F. Wintle, Y. Shen, S.W. Scherer, FORGE Canada Consortium, J.M. Friedman, J.L. Michaud, K.M. Boycott. FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project. AJHG. June 5, 2014 [Epub ahead of print].

    7. Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet. 2015 Jul;52(7):431-7.

    8. Li Karen, Birch PH, Garrett B, MacPhee M, Adam S, Friedman JM. Parents’ Perspectives on Supporting their Decision-making in Genome-wide Sequencing. Journal of Nursing Scholarship 48(3):265-75, 2016. doi: 10.1111/jnu.12207

    9. Vortel M, Adam S, Port-Thompson AV, Friedman JM, Grande SW, Birch PH. Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling. Patient Education and Counseling. Mar 24, 2016. pii: S0738-3991(16)30146-X. doi: 10.1016/j.pec.2016.03.024. [Epub ahead of print]

    10. Birch PH, Adam S, Bansback N, Coe RR, Hicklin J, Lehman A, Li KC, Friedman JM. DECIDE: a decision support tool to facilitate parents’ choices regarding genome-wide sequencing.  Journal of Genetic Counseling May 23, 2016. [Epub ahead of print] DOI: 10.1007/s10897-016-9971-8

    Grants

    Title: Next generation sequencing:  Towards guidelines for reporting incidental findings
    Amount: $25,000
    Role: Co-investigator
    Dates: 2010-8 to 2012-4
    Agency: APOGEE-Net/CanGène, University of Laval, Quebec, Canada

    Title: Development and evaluation of a decision aid for genomic sequencing
    Amount: $25,000
    Role: Co-investigator
    Dates: 2012-10 to 2013-12
    Agency: APOGEE-Net/CanGène, University of Laval, Quebec, Canada

    Title: OPTIONS
    Amount: $25,000
    Role: Co-investigator
    Dates: 2013-10 to 2014-12
    Agency: APOGEE-Net/CanGène, University of Laval, Quebec, Canada

    Title: DECIDE-Genomics: a decision support tool for families
    Amount: $3,500
    Role: Co-investigator
    Dates: 2013-12 to 2015-12
    Agency: Rare Diseases Foundation

    Title: Pediatric Epilepsy: Using Genomics to Improve Patient Care and Outcomes
    Amount: $100,000
    Role: Co-investigator
    Dates: 2014-12 to 2017-12
    Agency: Alva Foundation

    Honours & Awards
    Research Group Members

    Jan M. Friedman, Lab Director

    (See Friedman Lab for additional personnel)