Supplemental Table 1: Interview Guide

1. What is your professional role with the newborn screening population?
A. Board-certified biochemical geneticist
B. Board-certified geneticist who sees metabolic patients
C. Board-certified pediatrician who sees metabolic patients
D. Board-certified genetic counselor who sees metabolic patients
E. Other:______

2. How long have you practiced in metabolism?

A. Less than 1 year, B. 1-5 years, C. 6-10 years, D. Over 10 years

2. Approximately how many individual patients do you see either on an outpatient or inpatient basis per month?
A. One to ten, B. 10 to 30, C. 30-50, D. Over 50

3. What percentage of your clinical practice involves caring for metabolic patients?

A. Less than 10%, B. 10-25%, C. 26-50%, D. Over 50%

4. Does your state perform newborn screening for lysosomal storage diseases? If so, which ones?

5. Are you involved in newborn screening initiatives for your state? If yes, how?

6. Are you supported financially by a pharmaceutical company in a way that may bias your view on newborn screening for lysosomal storage diseases? If yes, how?

7. The proposal for population screening developed by Wilson and Jungner in 1968 outlined 10 criteria for inclusion of diseases, such as the need for an acceptable treatment for patients with the disease, a recognizable latent or early symptomatic stage, and the cost-effectiveness of testing.

8. In your opinion, are there diseases on the NBS panel in your state that do not fit these criteria? Prompts: Does screening for fatty acid oxidation disorders (MCAD, SCAD, CPT2) fit these criteria

9. Does screening for lysosomal storage diseases in general fit these criteria? On a scale of 1-5 (one being “fits very well” and 5 being “does not fit at all”), rate each of the following diseases in how well they fit the traditional model of newborn screening criteria:

a. MPS1
b. MPS2
c. Krabbe
d. Gaucher
e. Pompe disease
f. Fabry disease

10. In light of new technologies such as tandem mass spectrometry and whole exome sequencing, how important is it, in your opinion, to adhere to the Wilson and Jungner criteria and why?

11. In your opinion, on a scale of 1 to 5 (1 being very important), how important is it that diseases targeted by the newborn screen have onset of symptoms in infancy or early childhood?

12. Rate the following potential harms of diagnosing a late-onset condition on the newborn screen on a scale of 1 to 5 (1 being very harmful and 5 being not at all harmful):

A.Causes parental anxiety

B.Lack of autonomy for the child having the testing

C.Medicalization of a condition without health problems for many years- cost to child

D.Medicalization of a condition without health problems for many years- cost to society

E.Long-term insurability and employability concerns

  1. How important is it that a disease be treatable to be targeted on the NBS? What is your definition of treatable?
  1. Is a treatment with associated risk such as bone marrow transplant an acceptable treatment for inclusion in the NBS?
  1. On a scale of 1-5, 1 meaning you strongly agree and 5 meaning you strongly disagree, are you/would you be in favor of the following conditions being targeted on the NBS (not detected as a consequence of screening for another disease):
  1. PKU
  2. MCAD deficiency
  3. SCAD deficiency
  4. CPT2 deficiency
  5. Cystic fibrosis
  6. MPSI
  7. MPSII
  8. Pompe disease
  9. Fabry disease
  10. Gaucher disease
  11. Krabbe disease
  12. Fragile X syndrome
  13. BRCA1/2 genes
  14. Huntington disease
  1. In your experience, do you feel that you can often be confident in ruling in/ruling out an inborn error of metabolism following an abnormal newborn screen? Are there some diseases that are more difficult to rule in/rule out than others?
  1. Is NB screening for LSDs currently being performed in your state?
  1. If yes, have you have seen a patient for an abnormal NBS for LSDs?

If yes, for what disease? How has the abnormal NBS been beneficial to the patient and the patient’s family? Have there been any harms to having an abnormal NBS for the patient? For the family? For your practice?

  1. If no, what do you think the benefits are and what reservations do you have about newborn screening for the following diseases:
  1. MPSI/MPSII
  2. Pompe disease
  3. Fabry disease
  4. Gaucher disease
  5. Krabbe disease

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