DHC Pediatric Webinar - How Not to Lose Sleep Over Genomics as a Busy Primary Care Clinician

Tuesday, February 10, 2026, 8:00 AM - Saturday, February 10, 2029, 9:00 AM

AMA PRA Category 1 Credits™ (1.00 hours), ANCC Nursing Contact Hours (1.00 hours), ASWB Social Work Credit(s) (1.00 hours), CME-Designated Participation Credit (1.00 hours)

This Pediatric Lecture Series will discuss important pediatric topics that may lead to the improvement of child health from an individual, health care system and/or societal level. This presentation provides information on screening, reporting, diagnosis, treatment, and referral options for pediatric genetics.

Presenter

Nidhi Shah, MD, FACMG
Staff Geneticist, Dartmouth Health Children’s
Medical Director, Familial Cancer Risk Program, Dartmouth Cancer Center
Assistant Director of Molecular Genetics, Center for Advanced Technology, Dartmouth Health
Director of Operational Development, International Consortium on Newborn Sequencing (ICoNS)

Nidhi Shah, MD, FACMG, is a pediatrician–medical geneticist and physician-scientist with research interests in implementation science, precision genomic medicine, and novel applications of genetic tools and technologies in clinical care. She completed Pediatrics Residency at NUMC and the Northwell Health system in Long Island, NY followed by fellowship training in Clinical Genetics and Genomics as well as Implementation Science at the Harvard Medical School Genetics Training Program. She is passionate about exploring the promise of genomic newborn screening and is part of the core scientific team working on the NIH-funded Babyseq2 project, the first-of-its-kind randomized clinical trial designed to examine the medical, social, and economic impacts of integrating genomic sequencing into the clinical care of newborns. She also serves as the Director of Operational Development within the International Consortium of Newborn Sequencing (ICoNS). She loves practicing in Northern New England because caring for families across rural communities keeps my work grounded in what matters most: access, trust, and making advanced genomic care feasible in real-world settings, — and genuinely appreciates the natural beauty and the work-life balance that make it possible to recharge.

1. Identify common pediatric presentations and “red flags” that warrant referral to Genetics, including considerations related to joint hypermobility and suspected hEDS.
2. Describe pediatric genetic testing options, including test types, limitations, result categories (including uncertain results), and expected follow-up, to support appropriate family counseling.
3. Recognize practical and regulatory factors that affect genetic testing in clinical care, including insurance/prior authorization issues and New Hampshire state law considerations relevant to genetic testing.

In support of improving patient care, Dartmouth Health is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. 

American Medical Association (AMA)

Dartmouth Health designates this Enduring Material for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

American Nurses Credentialing Center (ANCC)

Dartmouth Health designates this Enduring Material for a maximum of 1.00 ANCC contact hours.

Association of Social Work Boards (ASWB)

As a Jointly Accredited Organization, Dartmouth Health is approved to offer social work continuing education by the Association of Social Work Boards (ASWB) Approved Continuing Education (ACE) program. Organizations, not individual courses, are approved under this program. Regulatory boards are the final authority on courses accepted for continuing education credit. Social workers completing this course receive 1.0 general continuing education credits.

Social Worker Account Setup

If you wish to apply for ASWB credit, you will need to enter your license number in your CE Profile by following these steps:

1. Log in to Dartmouth Health's CE portal (https://dh.cloud-cme.com).

2. From the My Account Menu, select Profile.

3. Ensure your degree and profession are accurately reflected.

4. Enter the state license type, License #, and Expiration date.

5. Scroll down to the bottom of the screen and click Submit.

All other learners may claim CME-designated participation credit. Consult your professional licensing board regarding the applicability and acceptance of CME-designated participation credit for programs certified for credit by organizations accredited by Joint Accreditation for Interprofessional Education.

Registration/Requirements for Successful Completion
You may claim credit for successful completion of this online course. In order to claim credit, you must follow these steps:

1. Click the Register tab above. If you are not logged into your account, you will need to log in. Use the Forgot Your Password? button if you need to reset your password.

2. Register for the activity.

3. Click the Content/Tests tab and then View Content to view the recording. View the entire presentation.

4. Complete the Post-Test (attestation - return to the Content/Tests tab to find it).

5. Click the Complete Evaluation button, or click My Account in the menu bar; then click Evaluations.

6. Complete and Submit the Evaluation.

Bibliographic Material

• Morlino S, Castori M. Placing joint hypermobility in context: traits, disorders and syndromes. Br Med Bull. 2023;147(1):90-107. https://doi.org/10.1093/bmb/ldad013

• Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. https://doi.org/10.1002/ajmg.c.31552

• Tinkle B, Castori M, Berglund B, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017;175(1):48-69. https://doi.org/10.1002/ajmg.c.31538

• Tofts LJ, Simmonds J, Schwartz SB, et al. Pediatric joint hypermobility: a diagnostic framework and narrative review. Orphanet J Rare Dis. 2023;18(1):104. Published 2023 May 4. https://doi.org/10.1186/s13023-023-02717-2

• Some graphics from ehlers-danlos.com

• Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., Faucett, W. A., Feuk, L., Friedman, J. M., Hamosh, A., Jackson, L., Kaminsky, E. B., Kok, K., Krantz, I. D., Kuhn, R. M., Lee, C., … Ledbetter, D. H. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American journal of human genetics, 86(5), 749–764.

• Moeschler, J. B., Shevell, M., & Committee on Genetics (2014). Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics, 134(3), e903–e918.

• Hersh, J. H., Saul, R. A., & Committee on Genetics (2011). Health supervision for children with fragile X syndrome. Pediatrics, 127(5), 994–1006.

• Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Peacock G, Riley C, Sherman SL, Brown WT, Berry-Kravis E. Autism spectrum disorder in fragile X syndrome: characterization using FORWARD. Pediatrics. 2017;139:S194–206.

• Manickam, K., McClain, M. R., Demmer, L. A., Biswas, S., Kearney, H. M., Malinowski, J., Massingham, L. J., Miller, D., Yu, T. W., Hisama, F. M., & ACMG Board of Directors (2021). 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). Genetics in medicine : official journal of the American College of Medical Genetics, 23(11), 2029–2037. https://doi.org/10.1038/s41436-021-01242-6

• Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., Pellecchia, G., Sung, W., Wang, Z., Bikangaga, P., Boelman, C., Carter, M. T., Cordeiro, D., Cytrynbaum, C., Dell, S. D., Dhir, P., … Marshall, C. R. (2018). Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in medicine : official journal of the American College of Medical Genetics, 20(4), 435–443. https://doi.org/10.1038/gim.2017.119

• Hyman, S. L., Levy, S. E., Myers, S. M., & COUNCIL ON CHILDREN WITH DISABILITIES, SECTION ON DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2020). Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics, 145(1), e20193447. https://doi.org/10.1542/peds.2019-3447

• Green RC, Shah N, Genetti CA, et al. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. Am J Hum Genet. 2023;110(7):1034-1045. https://doi.org/10.1016/j.ajhg.2023.05.007

• Gold NB, Adelson SM, Shah N, et al. Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023;6(5):e2312231. Published 2023 May 1. https://doi.org/10.1001/jamanetworkopen.2023.12231

• Smith HS, Zettler B, Genetti CA, et al. The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants. Am J Hum Genet. 2024;111(10):2094-2106. https://doi.org/10.1016/j.ajhg.2024.08.011

• Shah N, Brlek P, Buli? L, et al. Genomic sequencing for newborn screening: current perspectives and challenges. Croat Med J. 2024;65(3):261-267. https://doi.org/10.3325/cmj.2024.65.261
  
  

Provider Contact Information
Provider contact information for questions regarding accreditation of the activity:

Center for Learning and Professional Development
ACE Office
Dartmouth Health
[email protected]

You are not logged in.

Please click the button below to login or create a new account before continuing.

Mitigation of Relevant Financial Relationships

Dartmouth Health adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education.  Any individuals in a position to control the content of a CE activity, including planners, faculty, authors, or others are required to disclose all financial relationships with ineligible companies^.  All relevant financial relationships have been mitigated prior to the commencement of the activity.

^Ineligible Company is any entity whose primary business purpose is producing, marketing, selling, re-selling or distributing healthcare products used by or on patients.