Genetic Testing in Pediatric Neurology (CME)

Genetic Testing in Pediatric Neurology (CME)

Practice identifying when further value might be added by a molecular diagnosis and choosing the best genetic tests for the clinical context.

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About this course

Pediatric neurology providers and patients have more options than ever before for genetic testing. Evidence is growing for the utility of genetic testing for a range of conditions for the purpose of diagnosis and optimizing treatment. While genetic testing can be a powerful tool in certain situations, not all genetic testing is the same. Broader tests assess more genes and increase the possibility of a diagnosis, but also confer specific benefits, limitations, and challenges in results interpretation and counseling.

Precision Medicine for Your Practice is a series of short (20-30 min), online modules covering specific topics in genomics and precision medicine. In this module, Genetic Testing in Pediatric Neurology, participants will learn the benefits and limitations of genetic testing for pediatric neurological conditions. This online module will include five parts: overview information via an animated video; practice cases to facilitate learning-by-doing; and "dig deeper," logistics, and additional resources for those who are interested in more detail.

To claim credit, follow the steps in the learning path.

CME Information and Disclosures

Activity Overview
Precision Medicine for Your Practice: Genetic Testing in Pediatric Neurology (CME)
Original Publication Date:  September 5, 2019
Renewal Date: September 5, 2022
Expiration Date: September 8, 2025

Learning Objectives
Upon completion of this educational activity, the learner will be able to:

  • Identify scenarios in which there is further value added by molecular diagnosis
  • Evaluate the appropriateness of different genetic/genomic tests for clinical context
  • Evaluate when consulting a genetic expert can be helpful

Target Audience
This activity is designed to meet the educational needs of practicing physicians who work with children with neurologic conditions.

Accreditation Statement
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Claiming Your Credit

In order to claim credit 1) answer the pre-assessment questions, 2) work through the module content in its entirety, 3) successfully complete the post-assessment answering 4 out of 5 questions correctly and 4) complete the evaluation.  

Credit Designation Statement
The American Medical Association designates this enduring material for a maximum of .50 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Multimedia Contributors

  • Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory
  • Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory
  • Laura Nicholson, MD, PhD, Director of Research, Graduate Medical Education (GME), Scripps Health
  • Kate Reed, MPH, ScM, CGC, Director, Precision Oncology Education, Clinical Education, The Jackson Laboratory
  • Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory 

Disclosure Statement
Unless noted, all individuals in control of content reported no relevant financial relationships.

Sophia Ceulemans MS, CGC, a subject matter expert who reviewed this course, served as a one-time consultant on an advisory board for Taysha Gene Therapies. Course materials reviewed by Ms. Ceulemans were independently reviewed by a non-conflicted reviewer. All educational material has been peer-reviewed by external reviewers to assess for bias. 

References

Baker E, Jeste S. Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics Rare Disorders Can Pave the Way for Targeted Treatments. Pediatr Clin North Am. 2015;62:607-618. 

Bello L, Pegoraro E. Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy. Acta Myol. 2016;35(3):122-127. 

Bioethics Committee, Committee on Genetics, American College of Medical Genetics and Genomics Social, Ethical, and Legal Committee (2013). Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics. 2013;131(3):620-622. 

Bird TD. Approaches to the Patient with Neurogenetic Disease. Clin Lab Med. 2010;30:785-793. 

Bush LW, Bartoshesky LE, David KL, Wilfond B, Williams JL, Holm IA; ACMG SELI committee. Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jul;20(7):692-694. doi: 10.1038/gim.2018.36. Epub 2018 Mar 22. 

Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 Jun;21(6):1267-1270.  

Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol. 2018;14(12):735-745. 

Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet A. 2018;176(4):804-841. 

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A. Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors. J Genet Couns. 2012;21(6):752-760. 

Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice. Handb Clin Neurol. 2018;147:11-22. 

Fogel BL, Saty Satya-Murti, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pr. 2016;6:164-176. 

Han JY, Lee IG. Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. Clin Exp Pediatr. 2020 Jun;63(6):195-202. 

Huang Y, Yu S, Wu Z TB. Genetics of hereditary neurological disorders in children.Transl Pediatr. 2014;3(2):108-119. 

Hyman SL, Levy SE, Myers SM. Council on children with disabilities, section on developmental and behavioral pediatrics. Executive Summary: Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics. 2020 Jan;145(1):e20193448. 

Kang PB. Ethical issues in neurogenetic disorders. Ethical Leg Issues Neurol. 2013;118:265-276. 

Kaufmann WE. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century. Curr Neurol Neurosci Rep. 2016;16:103. 

Kiely B, Vettam S, Adesman A. Utilization of genetic testing among children with developmental disabilities in the United States. Appl Clin Genet. 2016;9:93-100. 

Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 Jun;22(6):986-1004. 

Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Nov;23(11):2029-2037. 

Manning M, Hudgins L; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee. Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities (ACMG). Genet Med. 2020 Dec;22(12):2126. 

Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, Stewart DR, Amendola LM, Adelman K, Bale SJ, Gollob MH, Harrison SM, Hershberger RE, McKelvey K, Richards CS, Vlangos CN, Watson MS, Martin CL; ACMG Secondary Findings Working Group. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1381-1390.  

Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1391-1398. 

Narayanan V. Genetics and Child Neurology: What Every Trainee/Resident Should Know.Semin Pediatr Neurol. 2011;18:81-84. 

Neubauer BA, Lemke JR. From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.Neuropediatrics. 2016;47:5-11. 

Ream MA, Patel AD. Obtaining genetic testing in pediatric epilepsy. Epilepsia. 2015;56(10):1505-1514. 

Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr. 2021 Feb 19;9:526779. 

Silveira-Moriyama L, Paciorkowski AR. Genetic Diagnostics for Neurologists. Contin Lifelong Learn Neurol. 2018;24(1):18-36. 

Sisodiya SM. Genetic screening and diagnosis in epilepsy?Curr Opin Neurol. 2015;28(2):136-142. 

Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 May;23(5):799-812. 

Vento JM. Family History: A Guide for Neurologists in the Age of Genomic Medicine. Semin Pediatr Neurol. 2012;19:160-166. 

Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Oct;20(10):1105-1113. 

Hardware/Software Requirements
Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher 

Check the supported browsers.

Should you have technical questions or questions regarding the content of the activity, please email Clinical and Continuing Education at the Jackson Laboratory.

Disclaimer 
All information in Precision Medicine for Your Practice is provided for educational purposes only. This information is not a substitute for clinical guidance or the consultation of a medical professional. Always seek the advice of a qualified health professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in Precision Medicine for Your Practice. Reliance on any information in Precision Medicine for Your Practice is solely at your own risk. The Jackson Laboratory does not endorse or recommend any specific procedures, tests, products, services, health professionals or other information that may be found in Precision Medicine for Your Practice.

Learning Path

  • Pre-assessment
  • Pre-course assessment
  • Review Course Materials
  • Genetic Testing in Pediatric Neurology
  • Post Quiz & Evaluation
  • Post-course assessment
  • Evaluation
  • Accessing your certificate
  • Resources
  • Tools & resources
  • More education
  • For patients

About this course

Pediatric neurology providers and patients have more options than ever before for genetic testing. Evidence is growing for the utility of genetic testing for a range of conditions for the purpose of diagnosis and optimizing treatment. While genetic testing can be a powerful tool in certain situations, not all genetic testing is the same. Broader tests assess more genes and increase the possibility of a diagnosis, but also confer specific benefits, limitations, and challenges in results interpretation and counseling.

Precision Medicine for Your Practice is a series of short (20-30 min), online modules covering specific topics in genomics and precision medicine. In this module, Genetic Testing in Pediatric Neurology, participants will learn the benefits and limitations of genetic testing for pediatric neurological conditions. This online module will include five parts: overview information via an animated video; practice cases to facilitate learning-by-doing; and "dig deeper," logistics, and additional resources for those who are interested in more detail.

To claim credit, follow the steps in the learning path.

CME Information and Disclosures

Activity Overview
Precision Medicine for Your Practice: Genetic Testing in Pediatric Neurology (CME)
Original Publication Date:  September 5, 2019
Renewal Date: September 5, 2022
Expiration Date: September 8, 2025

Learning Objectives
Upon completion of this educational activity, the learner will be able to:

  • Identify scenarios in which there is further value added by molecular diagnosis
  • Evaluate the appropriateness of different genetic/genomic tests for clinical context
  • Evaluate when consulting a genetic expert can be helpful

Target Audience
This activity is designed to meet the educational needs of practicing physicians who work with children with neurologic conditions.

Accreditation Statement
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Claiming Your Credit

In order to claim credit 1) answer the pre-assessment questions, 2) work through the module content in its entirety, 3) successfully complete the post-assessment answering 4 out of 5 questions correctly and 4) complete the evaluation.  

Credit Designation Statement
The American Medical Association designates this enduring material for a maximum of .50 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Multimedia Contributors

  • Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory
  • Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory
  • Laura Nicholson, MD, PhD, Director of Research, Graduate Medical Education (GME), Scripps Health
  • Kate Reed, MPH, ScM, CGC, Director, Precision Oncology Education, Clinical Education, The Jackson Laboratory
  • Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory 

Disclosure Statement
Unless noted, all individuals in control of content reported no relevant financial relationships.

Sophia Ceulemans MS, CGC, a subject matter expert who reviewed this course, served as a one-time consultant on an advisory board for Taysha Gene Therapies. Course materials reviewed by Ms. Ceulemans were independently reviewed by a non-conflicted reviewer. All educational material has been peer-reviewed by external reviewers to assess for bias. 

References

Baker E, Jeste S. Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics Rare Disorders Can Pave the Way for Targeted Treatments. Pediatr Clin North Am. 2015;62:607-618. 

Bello L, Pegoraro E. Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy. Acta Myol. 2016;35(3):122-127. 

Bioethics Committee, Committee on Genetics, American College of Medical Genetics and Genomics Social, Ethical, and Legal Committee (2013). Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics. 2013;131(3):620-622. 

Bird TD. Approaches to the Patient with Neurogenetic Disease. Clin Lab Med. 2010;30:785-793. 

Bush LW, Bartoshesky LE, David KL, Wilfond B, Williams JL, Holm IA; ACMG SELI committee. Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Jul;20(7):692-694. doi: 10.1038/gim.2018.36. Epub 2018 Mar 22. 

Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 Jun;21(6):1267-1270.  

Demarest ST, Brooks-Kayal A. From molecules to medicines: the dawn of targeted therapies for genetic epilepsies. Nat Rev Neurol. 2018;14(12):735-745. 

Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet A. 2018;176(4):804-841. 

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A. Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors. J Genet Couns. 2012;21(6):752-760. 

Fogel BL. Genetic and genomic testing for neurologic disease in clinical practice. Handb Clin Neurol. 2018;147:11-22. 

Fogel BL, Saty Satya-Murti, Cohen BH. Clinical exome sequencing in neurologic disease. Neurol Clin Pr. 2016;6:164-176. 

Han JY, Lee IG. Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. Clin Exp Pediatr. 2020 Jun;63(6):195-202. 

Huang Y, Yu S, Wu Z TB. Genetics of hereditary neurological disorders in children.Transl Pediatr. 2014;3(2):108-119. 

Hyman SL, Levy SE, Myers SM. Council on children with disabilities, section on developmental and behavioral pediatrics. Executive Summary: Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics. 2020 Jan;145(1):e20193448. 

Kang PB. Ethical issues in neurogenetic disorders. Ethical Leg Issues Neurol. 2013;118:265-276. 

Kaufmann WE. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century. Curr Neurol Neurosci Rep. 2016;16:103. 

Kiely B, Vettam S, Adesman A. Utilization of genetic testing among children with developmental disabilities in the United States. Appl Clin Genet. 2016;9:93-100. 

Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 Jun;22(6):986-1004. 

Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Nov;23(11):2029-2037. 

Manning M, Hudgins L; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee. Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities (ACMG). Genet Med. 2020 Dec;22(12):2126. 

Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, Stewart DR, Amendola LM, Adelman K, Bale SJ, Gollob MH, Harrison SM, Hershberger RE, McKelvey K, Richards CS, Vlangos CN, Watson MS, Martin CL; ACMG Secondary Findings Working Group. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1381-1390.  

Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1391-1398. 

Narayanan V. Genetics and Child Neurology: What Every Trainee/Resident Should Know.Semin Pediatr Neurol. 2011;18:81-84. 

Neubauer BA, Lemke JR. From Genetics to Genomics: A Short Introduction for Pediatric Neurologists.Neuropediatrics. 2016;47:5-11. 

Ream MA, Patel AD. Obtaining genetic testing in pediatric epilepsy. Epilepsia. 2015;56(10):1505-1514. 

Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr. 2021 Feb 19;9:526779. 

Silveira-Moriyama L, Paciorkowski AR. Genetic Diagnostics for Neurologists. Contin Lifelong Learn Neurol. 2018;24(1):18-36. 

Sisodiya SM. Genetic screening and diagnosis in epilepsy?Curr Opin Neurol. 2015;28(2):136-142. 

Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 May;23(5):799-812. 

Vento JM. Family History: A Guide for Neurologists in the Age of Genomic Medicine. Semin Pediatr Neurol. 2012;19:160-166. 

Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Oct;20(10):1105-1113. 

Hardware/Software Requirements
Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher 

Check the supported browsers.

Should you have technical questions or questions regarding the content of the activity, please email Clinical and Continuing Education at the Jackson Laboratory.

Disclaimer 
All information in Precision Medicine for Your Practice is provided for educational purposes only. This information is not a substitute for clinical guidance or the consultation of a medical professional. Always seek the advice of a qualified health professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in Precision Medicine for Your Practice. Reliance on any information in Precision Medicine for Your Practice is solely at your own risk. The Jackson Laboratory does not endorse or recommend any specific procedures, tests, products, services, health professionals or other information that may be found in Precision Medicine for Your Practice.

Learning Path

  • Pre-assessment
  • Pre-course assessment
  • Review Course Materials
  • Genetic Testing in Pediatric Neurology
  • Post Quiz & Evaluation
  • Post-course assessment
  • Evaluation
  • Accessing your certificate
  • Resources
  • Tools & resources
  • More education
  • For patients