EVIDENCE REVIEW: Severe Combined Immunodeficiency (SCID)

XIII. Appendix D- Letter and Questions Sent to SCID Advocacy Groups

Dear Name of Advocacy Group,

As you likely know, the Secretary of the Health and Human Services Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) is responsible for making evidence-based recommendations regarding what tests to include in newborn screening. The Committee has the responsibility to evaluate evidence for heritable diseases that have been formally nominated for neonatal screening. The advisory committee asked an Evidence Review Workgroup, based in the MGH Center for Child and Adolescent Health Policy, to develop systematic reviews of evidence to help the committee in its deliberations. As a parent of a child with a genetic disorder, I am working as a member of the Evidence Review Workgroup to gather views and evidence from parents and advocacy groups.

We are currently conducting a review of Severe Combined Immunodeficiency (SCID) and are writing to request your help with this endeavor. Specifically, we would like to know if you are available to share your experience and expertise as a parent regarding the current state of SCID screening, diagnosis, and treatment. Participating in this project would involve answering a short set of questions about your experience with SCID. After providing responses to these inquiries, you may also be contacted by phone, so that we may clarify some of your answers or seek more information about certain topics.

Our goal in contacting you is to have access to the most recent and up to date information available regarding SCID. In all of its activities, the Evidence Review Group has maintained sensitivity to issues of conflict of interest and the importance of limiting bias in the development of evidence. Should you agree to discuss your experience with us, we will discuss with you at that time our approach to confidentiality and transparency.

If you can help in this review process, please return your answers to the questions we have provided by Friday, December 19th, along with a signed copy of the attached conflict of interest form. Additionally, in case we need clarification regarding your responses, please send us a list of times between January 6th and 9th, 2009, when you would be available to discuss your answers over the phone. You may send all of these materials to Project Manager Alixandra Knapp by email (aaknapp@partners.org) or fax (617-726-1886).

Thank you very much for your time. We look forward to hearing from you. 

Sincerely, 

Denise Queally                      James M. Perrin, MD
Consumer Perspective           Professor of Pediatrics
Evidence Review Group

Key Questions:

Please answer the following questions based on your experiences with families of children with SCID.

I. Screening

• What do you know about screening children for SCID? Do you have information about how effective it is?
• Do you or your group recommend particular screening approaches? If so, which, and why?

II. Diagnosis

• Can you provide any information regarding the distribution or rates of the different physical or clinical characteristics of SCID?
• What information can you provide about the relationship between any gene findings (especially, by screening in infancy) and the child’s clinical course? 
• Are there benefits to early identification and diagnosis of SCID? If so, what are they?

III. Treatment

• How effective is treatment for SCID? What is done and how well does it work?
• How many treatment centers exist in the United States, and how do you learn of them?
• What are your experiences with any potential harms, physical or non-physical, associated with treatment?

IV. Other Information

• Is there anything else about SCID that you would like to share with us?