Patricia Birch
BSc, MSc
Investigator, Research Manager and Research Nurse, BC Children's Hospital
Developmental Medicine and Child Neurology
Sarikaya, E. and Cook, C.B. and Selby, K.A. and Shen, Y. and Elliott, A.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M.
DOI: 10.1111/dmcn.16275Journal of Genetic Counseling
Rojas, S.K. and Adam, S. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Elliott, A.M. and Zawati, M.H.
DOI: 10.1002/jgc4.1943Genetics in Medicine
Cook, C.B. and Pistawka, C. and Elliott, A.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1016/j.gim.2025.101354Journal of Genetic Counseling
Adam, S. and Gombas, P. and Demos, M. and Boelman, C. and Connolly, M.B. and Lavelle, K. and Friedman, J.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M. and Birch, P.
DOI: 10.1002/jgc4.70095Genetics in Medicine
Birch, P. and Beauchesne, R. and Bansback, N. and Boelman, C. and Connolly, M. and Demos, M. and Friedman, J.M. and Race, S. and Stockler, S. and Elliott, L.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Clarke, L. and Dragojlovic, N. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Elliott, A.M.
DOI: 10.1016/j.gim.2024.101173PEC Innovation
Beauchesne, R. and Birch, P. and Elliott, A.M.
DOI: 10.1016/j.pecinn.2023.100135Journal of Genetic Counseling
Macfadyen, L.P. and Austin, J. and Cao, P. and Cheng, J. and Cremin, C. and Duong, L. and Elliott, A.M. and Guimond, C. and Lim, S. and Race, S. and Rajan-Babu, I.-S. and Richardson, A. and Wainstein, T. and Zahir, F. and Birch, P.H.
DOI: 10.1002/jgc4.1737Journal of Genetic Counseling
Cheung, F. and Birch, P. and Friedman, J.M. and Elliott, A.M. and Adam, S.
DOI: 10.1002/jgc4.1558European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01063-4PEC Innovation
Handra, J. and Guimond, C. and Jordan, I. and Lenahan, B. and Ohs, K. and Beauchesne, R. and Adam, S. and Friedman, J.M. and Birch, P.
DOI: 10.1016/j.pecinn.2022.100039Journal of Genetic Counseling
Liang, N.S.Y. and Adam, S. and Elliott, A.M. and Siemens, A. and du Souich, C. and Friedman, J.M. and Birch, P.
DOI: 10.1002/jgc4.1454European Journal of Human Genetics
Slomp, C. and Morris, E. and Knoppers, B.M. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.H. and Price, M. and Elliott, A.M. and Austin, J.
DOI: 10.1038/s41431-022-01040-xGenome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Adam, S. and Souich, C.D. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Friedman, J. and Birch, P. and Couse, M. and Guimond, C. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00932-9Journal of Genetic Counseling
Lambert, D.M. and Patrinos, D. and Knoppers, B.M. and Zawati, M.H. and Elliott, A.M. and Austin, J. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Pullman, D. and Virani, A. and Wasserman, W.
DOI: 10.1002/jgc4.1468Canadian Journal of Cardiology
Christian, S. and Welsh, A. and Yetman, J. and Birch, P. and Bartels, K. and Burnell, L. and Curtis, F. and Huculak, C. and Zahavich, L. and Arbour, L. and Marcadier, J. and Atallah, J.
DOI: 10.1016/j.cjca.2021.05.018Molecular Genetics and Genomic Medicine
Enns, E.A. and Wainstein, T. and Dragojlovic, N. and Kopac, N. and Lynd, L.D. and Elliott, A.M. and Austin, J. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/mgg3.1784Journal of Genetic Counseling
Borle, K. and Dey, A. and Carrion, P. and Austin, J. and Elliott, A.M. and Knoppers, B. and Lynd, L.D. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Dragojlovic, N. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M. and Myers, M.
DOI: 10.1002/jgc4.1502Health Policy
Dragojlovic, N. and Kopac, N. and Borle, K. and Tandun, R. and Salmasi, S. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Elliott, A.M. and Lynd, L.D.
DOI: 10.1016/j.healthpol.2021.04.010Journal of Genetic Counseling
Aldridge, C.E. and Osiovich, H. and Siden, H. and Elliott, A.M. and Candido, T. and Christilaw, J. and Dragojlovic, N. and du Souich, C. and Evans, D.M. and Farrer, M.J. and Friedman, J.M. and Guella, I. and Lehman, A. and Lynd, L. and Tooman, L. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1002/jgc4.1353Genome Medicine
Rajan-Babu, I.-S. and Peng, J.J. and Chiu, R. and Birch, P. and Couse, M. and Guimond, C. and Lehman, A. and Mwenifumbo, J. and van Karnebeek, C. and Friedman, J. and Adam, S. and Du Souich, C. and Elliott, A. and Lehman, A. and Mwenifumbo, J. and Nelson, T. and van Karnebeek, C. and Rajan-Babu and Friedman, J. and Li, C. and Mohajeri, A. and Dolzhenko, E. and Eberle, M.A. and Birol, I. and Friedman, J.M.
DOI: 10.1186/s13073-021-00961-4Clinical Genetics
Grant, P. and Langlois, S. and Lynd, L.D. and Austin, J.C. and Elliott, A.M. and Dragojlovic, N. and Knoppers, B. and Dey, A. and Adam, S. and Bansback, N. and Birch, P. and Clarke, L. and Friedman, J. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, Z.
DOI: 10.1111/cge.14006Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and Borle K and Kopac N and Ellis U and Birch P and Adam S and Friedman JM and Nisselle A and GenCOUNSEL Study and Elliott AM and Lynd LD
DOI: 10.1038/s41436-020-0825-2 PubMed: 3257698706 / 2020
Genetics in Medicine
Dragojlovic, N. and Borle, K. and Kopac, N. and Ellis, U. and Birch, P. and Adam, S. and Friedman, J.M. and Nisselle, A. and Elliott, A.M. and Austin, J. and Knoppers, B. and Lynd, L.D. and Dey, A. and Bansback, N. and Clarke, L. and Lambert, D. and Pullman, D. and Virani, A. and Wasserman, W. and Zawati, M.
DOI: 10.1038/s41436-020-0903-5Genetics in Medicine
Dragojlovic, N. and van Karnebeek, C.D.M. and Ghani, A. and Genereaux, D. and Kim, E. and Birch, P. and Adam, S. and Dragojlovic, N. and du Souich, C. and Elliott, A.M. and Lehman, A. and Lynd, L. and Mwenifumbo, J. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Elliott, A.M. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/s41436-019-0635-6Journal of Genetic Counseling
Birch, P.H. and Adam, S. and Coe, R.R. and Port, A.V. and Vortel, M. and Friedman, J.M. and Lgar, F.
DOI: 10.1007/s10897-018-0285-xJournal of Genetic Counseling
Adam, S. and Birch, P.H. and Coe, R.R. and Bansback, N. and Jones, A.L. and Connolly, M.B. and Demos, M.K. and Toyota, E.B. and Farrer, M.J. and Friedman, J.M.
DOI: 10.1007/s10897-018-0281-1Journal of Genetic Counseling
Morgan, J. and Coe, R.R. and Lesueur, R. and Kenny, R. and Price, R. and Makela, N. and Birch, P.H.
DOI: 10.1002/jgc4.1073Orphanet Journal of Rare Diseases
Sellmer, L. and Farschtschi, S. and Marangoni, M. and Heran, M.K.S. and Birch, P. and Wenzel, R. and Mautner, V.-F. and Friedman, J.M.
DOI: 10.1186/s13023-018-0811-9Nurse Education Today
Erin K. Chamberlain, Shelin Adam, Adrian L. Jones, Kris Roberts, Patricia H. Birch. Pharmacogenomics and e-learning: evaluation of an online tool to improve knowledge among practicing nurses.Nurse Education Today.
UBC Medical Journal
M Thomas, L Phillips, J Taylor, P Birch, R Thomas, S Adam, M Hayden, JM Friedman. Survey of BC Physicians: Exploring current knowledge and impact of genomic technologies on clinical practice.UBC Medical Journal.
Orphanet Journal of Rare Diseases
Sellmer, L. and Farschtschi, S. and Marangoni, M. and Heran, M.K.S. and Birch, P. and Wenzel, R. and Friedman, J.M. and Mautner, V.-F.
DOI: 10.1186/s13023-017-0588-2Journal of Intellectual and Developmental Disability
Genereaux, D. and Bansback, N. and Birch, P.
DOI: 10.3109/13668250.2015.1087479Journal of Nursing Scholarship
Li, K.C. and Birch, P.H. and Garrett, B.M. and Macphee, M. and Adam, S. and Friedman, J.M.
DOI: 10.1111/jnu.12207Journal of Genetic Counseling
Birch, P. and Adam, S. and Bansback, N. and Coe, R.R. and Hicklin, J. and Lehman, A. and Li, K.C. and Friedman, J.M.
DOI: 10.1007/s10897-016-9971-8Patient Education and Counseling
Vortel, M.A. and Adam, S. and Port-Thompson, A.V. and Friedman, J.M. and Grande, S.W. and Birch, P.H.
DOI: 10.1016/j.pec.2016.03.024Clinical Genetics
Birch, P.H.
DOI: 10.1111/cge.12430Disability and Health Journal
Genereaux, D. and Van Karnebeek, C.D.M. and Birch, P.H.
DOI: 10.1016/j.dhjo.2015.03.011American Journal of Medical Genetics, Part A
Jett, K. and Nguyen, R. and Arman, D. and Birch, P. and Chohan, H. and Farschtschi, S. and Fuensterer, C. and Kluwe, L. and Friedman, J.M. and Mautner, V.F.
DOI: 10.1002/ajmg.a.37068Canadian Association of Genetic Counsellors Annual Meeting
Journal of Genetic Counseling
Lohn, Z. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1007/s10897-013-9604-4European Journal of Human Genetics
Townsend, A. and Rousseau, F. and Friedman, J. and Adam, S. and Lohn, Z. and Birch, P.
DOI: 10.1038/ejhg.2013.94E-Hits (eHealth and Innovative Technology Showcase)
Genetics in Medicine
Townsend, A. and Adam, S. and Birch, P.H. and Friedman, J.M.
DOI: 10.1038/gim.2013.105American Journal of Medical Genetics, Part A
Lohn, Z. and Adam, S. and Birch, P. and Townsend, A. and Friedman, J.
DOI: 10.1002/ajmg.a.35794American Journal of Medical Genetics, Part A
Armstrong, L. and Jett, K. and Birch, P. and Kendler, D.L. and Mckay, H. and Tsang, E. and Stevenson, D.A. and Hanley, D.A. and Egeli, D. and Burrows, M. and Friedman, J.M.
DOI: 10.1002/ajmg.a.36001Neurofibromatosis Type 1: Molecular and Cellular Biology
Birch, P. and Friedman, J.M.
DOI: 10.1007/978-3-642-32864-0_8Clinical Genetics
Tsang, E. and Birch, P. and Friedman, J.M.
DOI: 10.1111/j.1399-0004.2011.01801.xAmerican Journal of Medical Genetics, Part A
Townsend, A. and Adam, S. and Birch, P.H. and Lohn, Z. and Rousseau, F. and Friedman, J.M.
DOI: 10.1002/ajmg.a.35554BMC Medicine
Kolanczyk, M. and Mautner, V. and Kossler, N. and Nguyen, R. and Khnisch, J. and Zemojtel, T. and Jamsheer, A. and Wegener, E. and Thurisch, B. and Tinschert, S. and Holtkamp, N. and Park, S.-J. and Birch, P. and Kendler, D. and Harder, A. and Mundlos, S. and Kluwe, L.
DOI: 10.1186/1741-7015-9-82Clinical Oral Investigations
Tsang, E.S. and Birch, P. and Friedman, J.M. and Johnston, D. and Tucker, T. and Armstrong, L.
DOI: 10.1007/s00784-009-0361-6American Journal of Medical Genetics, Part A
Elefteriou, F. and Kolanczyk, M. and Schindeler, A. and Viskochil, D.H. and Hock, J.M. and Schorry, E.K. and Crawford, A.H. and Friedman, J.M. and Little, D. and Peltonen, J. and Carey, J.C. and Feldman, D. and Yu, X. and Armstrong, L. and Birch, P. and Kendler, D.L. and Mundlos, S. and Yang, F.-C. and Agiostratidou, G. and Hunter-Schaedle, K. and Stevenson, D.A.
DOI: 10.1002/ajmg.a.33045BMC Genomics
Friedman, J.M. and Adam, S. and Arbour, L. and Armstrong, L. and Baross, A. and Birch, P. and Boerkoel, C. and Chan, S. and Chai, D. and Delaney, A.D. and Flibotte, S. and Gibson, W.T. and Langlois, S. and Lemyre, E. and Li, H.I. and MacLeod, P. and Mathers, J. and Michaud, J.L. and McGillivray, B.C. and Patel, M.S. and Qian, H. and Rouleau, G.A. and Van Allen, M.I. and Yong, S. and Zahir, F.R. and Eydoux, P. and Marra, M.A.
DOI: 10.1186/1471-2164-10-526American Journal of Medical Genetics, Part A
Makela, N.L. and Birch, P.H. and Friedman, J.M. and Marra, C.A.
DOI: 10.1002/ajmg.a.33050BMC Bioinformatics
Baross, ?. and Delaney, A.D. and Li, H.I. and Nayar, T. and Flibotte, S. and Qian, H. and Chan, S.Y. and Asano, J. and Ally, A. and Cao, M. and Birch, P. and Brown-John, M. and Fernandes, N. and Go, A. and Kennedy, G. and Langlois, S. and Eydoux, P. and Friedman, J.M. and Marra, M.A.
DOI: 10.1186/1471-2105-8-368Clinical Genetics
Tucker, T. and Birch, P. and Savoy, D.M. and Friedman, J.M.
DOI: 10.1111/j.1399-0004.2007.00886.xAmerican Journal of Medical Genetics, Part A
Alwan, S. and Armstrong, L. and Joe, H. and Birch, P.H. and Szudek, J. and Friedman, J.M.
DOI: 10.1002/ajmg.a.31754American Journal of Human Genetics
Friedman, J.M. and Baross, ?. and Delaney, A.D. and Ally, A. and Arbour, L. and Asano, J. and Bailey, D.K. and Barber, S. and Birch, P. and Brown-John, M. and Cao, M. and Chan, S. and Charest, D.L. and Farnoud, N. and Fernandes, N. and Flibotte, S. and Go, A. and Gibson, W.T. and Holt, R.A. and Jones, S.J.M. and Kennedy, G.C. and Krzywinski, M. and Langlois, S. and Li, H.I. and McGillivray, B.C. and Nayar, T. and Pugh, T.J. and Rajcan-Separovic, E. and Schein, J.E. and Schnerch, A. and Siddiqui, A. and Van Allen, M.I. and Wilson, G. and Yong, S.-L. and Zahir, F. and Eydoux, P. and Marra, M.A.
DOI: 10.1086/507471American Journal of Medical Genetics
Khosrotehrani, K. and Bastuji-Garin, S. and Riccardi, V.M. and Birch, P. and Friedman, J.M. and Wolkenstein, P.
DOI: 10.1002/ajmg.a.30394Journees Dermatolgiques de Paris
Journees Dermatolgiques de Paris
American Journal of Medical Genetics - Seminars in Medical Genetics
Birch, P. and Friedman, J.M.
DOI: 10.1002/ajmg.c.30007American Journal of Obstetrics and Gynecology
Money, D.M. and Arikan, Y.Y. and Remple, V. and Sherlock, C. and Craib, K. and Birch, P. and Burdge, D.R.
DOI: 10.1067/mob.2003.65American Journal of Obstetrics and Gynecology
Money, D.M. and Arikan, Y.Y. and Remple, V. and Sherlock, C. and Craib, K. and Birch, P. and Burdge, D.R.
Neurology
Gutmann, D.H. and Rasmussen, S.A. and Wolkenstein, P. and MacCollin, M.M. and Guha, A. and Inskip, P.D. and North, K.N. and Poyhonen, M. and Birch, P.H. and Friedman, J.M.
DOI: 10.1212/WNL.59.5.759Canadian Journal of Surgery
Kwok, E.S.H. and Sawatzky, B. and Birch, P. and Friedman, J.M. and Tredwell, S.J.
Genetic Epidemiology
Szudek, J. and Birch, P. and Riccardi, V.M. and Evans, D.G. and Friedman, J.M.
DOI: 10.1002/1098-2272(200012)19:4u003C429::AID-GEPI13u003E3.0.CO;2-NJournal of Medical Genetics
Szudek, J. and Birch, P. and Friedman, J.M. and Burke, W. and Bennett, R. and de Campos, J.M. and Korf, B. and Krause, W. and Uhas, K. and Niimura, M. and Inaba, Y. and North, K. and Ortenberg, J. and der Kaloustian, V. and Poyhonen, M. and Rubenstein, A. and Short, P. and Bove, K. and Stine, S. and Nicholson, L. and Tenconi, R. and Zackai, E. and Carey, J. and Viskochil, D. and Bochkov, N. and Schorry, E. and Tinschert, S. and Kelly, T. and Klein, J. and Piynick, E. and Colley, A. and Schulke, M. and Signorini, M. and Wolkenstein, P. and Danek, A.
DOI: 10.1136/jmg.37.12.933American Journal of Medical Genetics
Szudek, J. and Birch, P. and Friedman, J.M.
DOI: 10.1002/(SICI)1096-8628(20000529)92:3u003C224::AID-AJMG12u003E3.0.CO;2-JAmerican Journal of Medical Genetics
Lin, A.E. and Birch, P.H. and Korf, B.R. and Tenconi, R. and Niimura, M. and Poyhonen, M. and Uhas, K.A. and Sigorini, M. and Virdis, R. and Romano, C. and Bonioli, E. and Wolkenstein, P. and Pivnick, E.K. and Lawrence, M. and Friedman, J.M.
DOI: 10.1002/1096-8628(20001113)95:2u003C108::AID-AJMG4u003E3.0.CO;2-0Neurology
M. E. Baser and P. H. Birch and D. G. R. Evans and J. M. Friedman and J. H. Tonsgard
DOI: 10.1212/wnl.52.7.1517-d04 / 1999
Neurology
Baser, M.E. and Birch, P.H. and Evans, D.G.R. and Friedman, J.M. and Tonsgard, J.H.
American Journal of Medical Genetics
Stevenson, D.A. and Birch, P.H. and Friedman, J.M. and Viskochil, D.H. and Balestrazzi, P. and Boni, S. and Buske, A. and Korf, B.R. and Niimura, M. and Pivnick, E.K. and Schorry, E.K. and Short, M.P. and Tenconi, R. and Tonsgard, J.H. and Carey, J.C.
DOI: 10.1002/(SICI)1096-8628(19990611)84:5u003C413::AID-AJMG5u003E3.0.CO;2-1Neuropediatrics
Friedman, J.M. and Birch, P.
DOI: 10.1055/s-2007-973687American Journal of Medical Genetics
Friedman, J.M. and Birch, P.H.
DOI: 10.1002/(SICI)1096-8628(19970516)70:2u003C138::AID-AJMG7u003E3.0.CO;2-UHuman Genetics
Gorski, S.M. and Adams, K.J. and Birch, P.H. and Chodirker, B.N. and Greenberg, C.R. and Goodfellow, P.J.
DOI: 10.1007/BF00202859Pediatric Emergency Care
Macnab, A.J. and Birch, P. and Macready, J.
DOI: 10.1097/00006565-199308000-00003American Journal of Medical Genetics
Friedman, J.M. and Birch, P. and Greene, C. and Berry, S. and King, R. and Burke, W. and Bennett, R. and De Campos, J.M. and Huson, S. and Korf, B. and Krause, W. and Armfield, K. and Niimura, M. and Inaba, Y. and North, K. and Ortenberg, J. and Der Kaloustian, V. and Poyhonen, M. and Rubenstein, A.
DOI: 10.1002/ajmg.1320450121American Journal of Human Genetics
Gorski, S M AND Adams, K J AND Birch, P H AND Friedman, J M AND Goodfellow, P J
American Journal of Human Genetics
Gorski, S.M. and Adams, K.J. and Birch, P.H. and Friedman, J.M. and Goodfellow, P.J.
The Friedman Lab’s long-term neurofibromatosis (NF) research program works to improve understanding of the natural history of NF and the pathogenetic mechanisms underlying it. This includes studies of the cardiovascular and orthopedic complications, the clinical course of optic gliomas and other brain tumours, and other manifestations of the condition. Supporting quality of life, and providing optimal clinical care is an important issue for families with NF.
Several other research projects focus on patient-centred care. The first relates to health economics, particularly the out-of-pocket costs to families , and the non-medical societal costs of caring for children with intellectual disabilities. Surprisingly, these cost data did not previously exist in Canada and are poorly studied elsewhere in the world. We have developed, tested, and published an online tool to capture families’ and society’s costs of caring for children with developmental challenges and other conditions. In this way we can assess the impact of introducing new tests or treatments for these children.
Our lab’s involvement in genome-wide sequencing provides the opportunity to assess the best ways to support families’ decisions regarding genomic testing: 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 user’s 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.
2014-2015
Principal Applicant
“Diagnosing the Causes of Complex Intellectual Disability
a decision support tool for families
Rare Disease Foundation, $3,500
2013-2014
Principal Applicant
DECIDE-Genomics
2013-2015
Co-investigator
Assessing Shared Decision Making in Genetic Counselling of High-Risk Pregnancies
APOGEE/CanGene, $25,000. PI
J.M Friedman
Does Genome-Wide
Sequencing Result in Cost Savings to Healthcare, Families and Society?”
Rare Disease Foundation, $3,500.
2013-2014
Principal Applicant
Costs of Caring for Children with Rare Diseases
Rare Disease Foundation, $3,500
2015-2016
Principal Applicant
What is the prevalence and natural history of optic-and non-optic glioma in adults with neurofibromatosis 1 (NF1)?
Rare Disease Foundation, $3,500
Every day, our researchers work towards breakthroughs to transform the lives of kids in BC and around the world. Learn about our latest innovations and advancements in child health.
Each year, the University of British Columbia Faculty of Medicine recognizes faculty and staff members for excellence in teaching, research, administration, innovation and public service.
Welcome to this month’s Research Roundup, a recurring overview of recent studies published by researchers at BC Children’s Hospital Research Institute (BCCHR) and the University of British Columbia, and their collaborators.
At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.
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BC Children's Hospital Research Institute operates on the ancestral and unceded territory of the Coast Salish peoples — xʷməθkʷəy̓əm (Musqueam), Sḵwx̱wú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations. Further, this acknowledgement, gratitude, and respect extends to all of the First Nations communities on whose territories the Research Institute builds relationships and operates in British Columbia.
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