1. Genetics Resources for the
Primary Care Team
Jodi D. Hoffman, MD
Boston Medical Center
November 9, 2021
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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
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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
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Looks for non-glucose
sugars like galactose

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FLK

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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?
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12. pinterest.com/pin/142285669450967884/
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13. OMIM.org
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14. List of Features to Check the DDx:
• Select several syndromes and review the list of findings by
selecting the orange clinical synopsis button:
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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:
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21. The Diagnosis is Confirmed
• What resources can I provide to the family?
– Short explanations
– Long explanations
– Support groups
– Educational videos
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28. Chromosomal Syndromes
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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
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