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Genetics Resources for the Primary Care Team

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Genetics Resources for the Primary Care Team

  1. 1. Genetics Resources for the Primary Care Team Jodi D. Hoffman, MD Boston Medical Center November 9, 2021 1
  2. 2. Objectives By the end of this session, attendees will be able to: • Locate guides for next steps for an abnormal newborn screen • Use medical terminology to describe patients’ features • Unite several features to create a differential diagnosis • Provide management outlines to patients with genetic diagnoses • Identify patient-friendly resources about genetic conditions 2
  3. 3. The MA Newborn Screen • Typical screening includes: – Metabolic conditions: amino acidopathies, urea cycle disorders, organic acidopathies, FAOD, galactosemia, biotinidase deficiency – Endocrinopathies; Cystic fibrosis – SCID; Toxoplasmosis – Hemoglobinopathies • Pilot screening started in 2018 – SMA, X-ALD, MPS-I, and Pompe Disease – Know what your affiliates send (opt in or out) • Brochures in 9 languages – https://nensp.umassmed.edu/parents/massachusetts-parents/brochures- massachusetts-parents 3
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  6. 6. 6 Looks for non-glucose sugars like galactose
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  9. 9. 9 FLK
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  11. 11. How to Unite Features for a DDx • 4 month-old baby girl - admitted to the pediatric service for failure to thrive • Physical exam - petite, somewhat over-folded ear helices, short palpebral fissures, eyelid hooding, cleft palate, tapered fingers, and a murmur • An echocardiogram shows a small VSD • In the maternal grandmother's custody, due to maternal history of heroin use and rapidly cycling bipolar disorder • Genetics consult is requested, but not available • Where might I start? 11
  12. 12. pinterest.com/pin/142285669450967884/ 12
  13. 13. OMIM.org 13
  14. 14. List of Features to Check the DDx: • Select several syndromes and review the list of findings by selecting the orange clinical synopsis button: 14
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  18. 18. If the diagnosis seems clear, what’s next? • How is the diagnosis made? • If the child has the syndrome, what should I focus on before discharge? • Try GeneReviews.org: 18
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  21. 21. The Diagnosis is Confirmed • What resources can I provide to the family? – Short explanations – Long explanations – Support groups – Educational videos 21
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  28. 28. Chromosomal Syndromes 28
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  35. 35. Resources and References • ACT sheets: acmg.net/ACMG/Medical-Genetics-Practice- Resources/ACT_Sheets_and_Algorithms.aspxOnline • NHGRI Morphology Series: elementsofmorphology.nih.gov • Mendelian Inheritance in Man: omim.org • Atlas of human malformation syndromes: research.nhgri.nih.gov/atlas/ • Gene Reviews: genereviews.org • Unique Chromosomes: rarechromo.org • MedlinePlus Genetics: medlineplus.gov/genetics/ • Genetic and Rare Diseases Info Ctr (GARD): rarediseases.info.nih.gov/diseases/ • Nat’l Org. for Rare Disorders (NORD): rarediseases.org/ • Genetic Alliance Website: geneticalliance.org 35

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