Alison Elliott

Associate Professor

Research Classification

Research Interests

rare disease
genomics
Congenital Malformations
Skeletal and limb anomalies
Genetic Counselling
Health services implementation science

Relevant Thesis-Based Degree Programs

Affiliations to Research Centres, Institutes & Clusters

Research Options

I am available and interested in collaborations (e.g. clusters, grants).
I am interested in and conduct interdisciplinary research.
I am interested in working with undergraduate students on research projects.

Research Methodology

qualitative and quantitative methods, health services implementation science, genetic counselling

Recruitment

Master's students
Doctoral students
Postdoctoral Fellows

Genetic counselling

Birth defects

Health Implementation Science

I am interested in hiring Co-op students for research placements.
I am interested in supervising students to conduct interdisciplinary research.

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ADVICE AND INSIGHTS FROM 亚洲天堂 FACULTY ON REACHING OUT TO SUPERVISORS

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Graduate Student Supervision

Master's Student Supervision

Theses completed in 2010 or later are listed below. Please note that there is a 6-12 month delay to add the latest theses.

Investigating trends in out-of-pocket pay for out-of-province genetic testing in British Columbia (2022)

Introduction In British Columbia (BC), the institution responsible for funding out-of-province genetic testing (clinical genetic tests not provided by BC laboratories) changed as of June 1st 2018, from the Medical Services Plan (MSP) public health insurance to the BC Agency for Pathology and Laboratory Medicine (BCAPLM). This study aimed to investigate the effect of this changeover, by examining the trends in out-of-province testing and uptake of patient out-of-pocket (OOP) pay, from January 1st 2015 to December 31st 2019. This study also aimed to explore relationships between patient OOP pay and variables such as clinical indication, postal code, and income.Methods De-identified patient data was received from the BC Provincial Medical Genetics Program (PMGP) and the BC Cancer Hereditary Cancer Program (HCP). To examine the effect of the change in funding authority on out-of-province testing, an interrupted time series analysis was performed using PMGP data. Regression analysis using HCP data was carried out to explore the relationships between OOP pay with patient and test characteristics.Results The number of out-of-province tests completed through the PMGP, and the number of tests completed through the HCP, rose year-on-year between 2015 and 2019, with increases of 260% and 320%, respectively. Under MSP, the total number of out-of-province tests did not exhibit a statistically significant change (mean difference per month, 0.33; 95% CI -0.37, 1.02). Under BCAPLM, the number of tests increased by 2.35 per-month (95% CI 1.03, 3.66). In particular, the volume of known mutation tests, panel tests, and exome singletons increased considerably following the changeover. The likelihood of a patient having an OOP payment decreased by 87% under BCAPLM (95% CI 0.06, 0.32). For each year studied, patients who paid OOP had average annual income at least $3500 higher those who received funding, indicating that patients with lower incomes were less likely to pay OOP.Conclusions While many factors contribute to the demand for and coverage of clinical genetic testing, for example emerging data about the utility of exome sequencing for singletons vs. trios, coverage of out-of-province genetic and genomic testing has improved in BC since the introduction of BCAPLM.

Publications

  • (2022)
    JAMA Pediatrics, 176 (2), 185-195
  • (2022)
    European Journal of Human Genetics,
  • (2021)
    Journal of Genetic Counseling,
  • (2021)
    American Journal of Medical Genetics, Part A, 185 (9), 2809-2814
  • (2021)
    Genome Medicine, 13 (1)
  • (2021)
    European Journal of Human Genetics, 29 (10), 1589
  • (2021)
    Molecular Genetics and Genomic Medicine,
  • (2021)
    Human Mutation, 42 (4), 346-358
  • (2021)
    Molecular Genetics and Metabolism,
  • (2021)
    Journal of Genetic Counseling,
  • (2021)
    Journal of Genetic Counseling,
  • (2021)
    Genome Medicine, 13 (1)
  • (2021)
    European Journal of Medical Genetics, 64 (7)
  • (2021)
    European Journal of Human Genetics, 29 (2), 280-288
  • (2021)
    Human Mutation, 42 (7), 862-876
  • (2021)
    Clinical Genetics, 100 (5), 504-521
  • (2021)
    Journal of Genetic Counseling, 30 (2), 616-629
  • (2021)
    Cold Spring Harbor Molecular Case Studies, 7 (6)
  • (2021)
    British Journal of Haematology,
  • (2021)
    European Journal of Human Genetics, 29 (10), 1491-1501
  • (2021)
    Health Policy, 125 (7), 877-887
  • (2021)
    Journal of Telemedicine and Telecare,
  • (2020)
    Genetics in medicine : official journal of the American College of Medical Genetics,
  • (2020)
    European journal of human genetics : EJHG,
  • (2020)
    Cold Spring Harbor Perspectives in Medicine, 10 (3)
  • (2020)
    Molecular Genetics and Genomic Medicine, 8 (7)
  • (2020)
    Genetics in medicine : official journal of the American College of Medical Genetics,
  • (2019)
    Molecular Genetics and Genomic Medicine, 7 (4)
  • (2019)
    Journal of Genetic Counseling, 28 (2), 263-272
  • (2019)
    Journal of Genetic Counseling, 28 (2), 202-212
  • (2019)
    European journal of pediatrics,
  • (2019)
    American journal of medical genetics. Part A,
  • (2019)
    Paediatrics and Child Health (Canada), 24 (6), 395-401
  • (2019)
    Genetics in medicine : official journal of the American College of Medical Genetics,
  • (2019)
    Clinical Infectious Diseases, 68 (10), 1665-1674
  • (2018)
    Genetics in medicine : official journal of the American College of Medical Genetics,
  • (2018)
    Journal of Evaluation in Clinical Practice, 24 (2), 416-422
  • (2018)
    Parasite Immunology, 40 (1)
  • (2018)
    Genetics in Medicine, 20 (9), 1013-1021
  • (2018)
    Molecular Genetics and Genomic Medicine, 6 (4), 592-600
  • (2018)
    Nature Reviews Genetics, 19 (12), 735-736
  • (2017)
    Clinical Genetics, 91 (3), 499-500
  • (2017)
    American journal of human genetics,
  • (2016)
    Journal of Genetic Counseling, 25 (1), 25-31
  • (2016)
    Nature Communications, 7
  • (2016)
    American Journal of Medical Genetics, Part A, 170 (10), 2652-2661
  • (2016)
    Genetics in Medicine,
  • (2015)
    American Journal of Medical Genetics, Part A, 167 (4), 928-929
  • (2015)
    Tropical Medicine and International Health, 20 (9), 1201-1208
  • (2015)
    Development (Cambridge), 142 (4), 672-680
  • (2014)
    Journal of Genetic Counseling, 23 (5), 881-889
  • (2013)
    Journal of Medical Genetics, 50 (12), 819-822
  • (2013)
    SpringerPlus, 2 (1), 1-6
  • (2012)
    American Journal of Medical Genetics, Part A, 158 A (2), 391-399
  • (2012)
    Journal of Genetic Counseling, 21 (2), 337-344
  • (2011)
    American Journal of Medical Genetics, Part A, 155 (9), 2247-2252
  • (2010)
    Genetics and molecular research : GMR, 9 (3), 1785-1790
  • (2010)
    Skeletal Radiology, 39 (1), 49-54
  • Central ray deficiency with extensive syndactyly: A dilemma for classification (2009)
    Genetic Counseling, 20 (1), 27-43
  • (2009)
    Skeletal Radiology, 38 (6), 585-591
  • (2008)
    Birth Defects Research Part A - Clinical and Molecular Teratology, 82 (6), 425-434
  • (2007)
    Birth Defects Research Part A - Clinical and Molecular Teratology, 79 (1), 58-61
  • (2006)
    American Journal of Medical Genetics, Part A, 140 (13), 1428-1439
  • (2006)
    American Journal of Medical Genetics, Part A, 140 (13), 1419-1427
  • (2006)
    American Journal of Medical Genetics, 140 A (10), 1127
  • (2006)
    American Journal of Medical Genetics, Part A, 140 (14), 1553-1563
  • (2005)
    Clinical Genetics, 68 (5), 408-423
  • (2005)
    American Journal of Medical Genetics, 132 A (2), 191-193
  • (2005)
    Clinical Genetics, 68 (6), 501-505
  • (2004)
    Clinical Dysmorphology, 13 (3), 143-150
  • (2004)
    Skeletal Radiology, 33 (6), 345-351
  • A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia-Rosenberg (2003)
    American Journal of Medical Genetics, 119 A (1), 50-56
  • (2002)
    American Journal of Medical Genetics, 109 (2), 139-148
  • (2002)
    American Journal of Medical Genetics, 113 (4), 351-361
  • (2001)
    Synapse, 40 (2), 154-158
  • (2001)
    American Journal of Medical Genetics, 100 (3), 198-203
  • (2000)
    Clinical Dysmorphology, 9 (1), 15-19
  • 3.0.co;2-e" target="_blank">Scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) spectrum: Three additional cases (2000)
    American Journal of Medical Genetics, 95 (5), 496-506
  • 3.0.co;2-3" target="_blank">Dyskeratosis congenita: An autosomal recessive variant (1999)
    American Journal of Medical Genetics, 83 (3), 178-182
  • 3.0.co;2-l" target="_blank">Deletion of 22q11 in two brothers with different phenotype (1998)
    American Journal of Medical Genetics, 75 (3), 288-291
  • (1998)
    American Journal of Human Genetics, 63 (1), 125-134
  • 3.0.co;2-l" target="_blank">Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. (1997)
    American journal of medical genetics, 73 (4), 495-496
  • (1996)
    American journal of medical genetics, 61 (1), 94
  • 3.0.co;2-x" target="_blank">New syndrome?: MCA/MR syndrome with multiple circumferential skin creases (1996)
    American Journal of Medical Genetics, 62 (1), 23-25
  • 3.0.co;2-0" target="_blank">Possible new variant of Nijmegen breakage syndrome (1996)
    American Journal of Medical Genetics, 65 (1), 21-26
  • (1996)
    Clinical Dysmorphology, 5 (2), 135-142
  • 3.0.co;2-g" target="_blank">Skeletal and cardiac malformations with thrombocytopenia: A new syndrome? (1996)
    American Journal of Medical Genetics, 64 (3), 497-500
  • (1995)
    American Journal of Medical Genetics, 55 (2), 240-243
  • (1995)
    Journal of Medical Genetics, 32 (12), 998

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Location

BC Children's Hospital

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