Genetic Testing Pretest Checklist
ABOUT
Genetic Testing QI project
This interactive document provides links to essential resources at each step, including educational videos, pamphlets, test information, ConnectCare instructions, and referral forms. We at PRISMA have included some supplemental materials to assist you in your genetic testing journey. We encourage you to explore these resources and use the checklist to ensure that all key aspects of pre-test counseling are covered. Our team is available to assist you in ordering genetic testing and to offer counseling for any positive results through our Genomic Psychiatry Consultation service. If you have any questions or would like more information, please don’t hesitate to reach out to us by emailing prisma@ualberta.ca. Click here to dowloand the checklist
Confirm Diagnostic Criteria
Patient has met criteria for ASD genetic testing. Clinical diagnosis of autism spectrum disorder or global developmental delay, intellectual disability, or speech delay AND Incomplete, outdated or absence of genetic testing.
Genetic testing
Understanding Genetic Testing for ASD
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ASD is diagnosed clinically. A mixture of environment and genetic factors underly the condition. Over 100 genes, however, are known to play a role. Genetic testing can identify an underlying cause in 40% of individuals. Knowing genetic changes that cause a particular case of ASD could connect patient with organizations and families with the same mutation and guide personal medical management or future planning.
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Standard of Care: Multiple medical professional societies including the Canadian Paediatric Society (CPS), American Academy of Pediatrics (AAP), American College of Medical Genetics (ACMG) and American Academy of Clinical Psychiatrists (AACP) have recommended genetic testing, specifically Fragile X, CMA as the standard of care. (1-5)
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Genetic testing is always a choice. Genetic counseling remains available should you want to discuss this in more detail.
Understanding
basic Genetics
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Share educational video
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Provide pamphlet
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Key Points:
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Genetic testing is a blood test to help identify an under-lying genetic component to ASD
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Genes make us who we are.
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Tests: Chromosomal Microarray and Fragile X
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Genetic results may be positive (pathogenic), negative (benign) or uncertain (VUS- variant of uncertain significance).
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Genetic testing is protected by the Genetic Non- Discrimination Act (GNDA 2020)
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Ordering Testing
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Ordering Via Connect Care
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Ordering Guide: Chromosomal Microarray (CMA): Information for Ordering
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Requisition form for Reference
Timelime
Genetic test results are usually available in 6-8 weeks after the blood sample is received in the lab
Results Disclosure
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NEGATIVE: Please discuss results with the patient and assure they received a copy of their results as well as an appropriate handout. Results will live in EHR.
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POSITIVE/VUS: Patients with a pathogenic results or a variant of uncertain significance (VUS) should be referred for an appointment at the Genomic Psychiatry Consultation to ensure that results are reported under the guidance of a genetic professional and management is reviewed. Results will live in EHR. Referrals to the Genomic Psychiatry consult service using this form.
Professional Recommendations:
1. Standards of diagnostic assessment for autism spectrum disorder
Brian JA, Zwaigenbaum L, Ip A . Paediatr Child Health. 2019;24(7):444-60.
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Manning M, Hudgins L, Professional P, Guidelines C. Genet Med. 2010;12(11):742-5.
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3. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Am J Hum Genet. 2010;86(5):749-64.
4. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Schaefer GB, Mendelsohn NJ, Professional P, Guidelines C. Genet Med. 2013;15(5):399-407.​
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5.​ Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M, et al. J Am Acad Child Adolesc Psychiatry. 2014;53(2):237-57.