2021-2022 Genetics Webinar Series slides for November 9 2021 session

1. Genetics Resources for the
Primary Care Team
Jodi D. Hoffman, MD
Boston Medical Center
November 9, 2021
1

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. 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

4. 4

5. 5

6. 6
Looks for non-glucose
sugars like galactose

7. 7

8. 8

9. 9
FLK

10. 10

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. pinterest.com/pin/142285669450967884/
12

13. OMIM.org
13

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

15. 15

16. 16

17. 17

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

19. 19

20. 20

21. The Diagnosis is Confirmed
• What resources can I provide to the family?
– Short explanations
– Long explanations
– Support groups
– Educational videos
21

22. 22

23. 23

24. 24

25. 25

26. 26

27. 27

28. Chromosomal Syndromes
28

29. 29

30. 30

31. 31

32. 32

33. 33

34. 34

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