0920-0641 Attachment 4 Intro Letters

Attachment 4

Introductory Letters with Informed Consent for Participation

to Laboratory Directors, Follow-up Coordinators, and Employees in Metabolic Clinics

Dear ,

The Newborn Screening Quality Assurance Program (NSQAP) of the Centers for Disease Control and Prevention (CDC), and the National Newborn Screening and Genetics Resource Center (NNSGRC) are conducting a research study of delayed diagnoses (missed cases) in newborn screening. We want to identify and classify the causes of screened metabolic disorders identified outside of the newborn screening system (i.e., clinically) or identified through newborn blood spot screening but with a delay in diagnosis or initiation of treatment (missed cases) that have occurred since 1983.

Because of the dedicated work of the newborn screening community, almost all children born with conditions detected by newborn dried blood spot screening are rapidly diagnosed and treated. Rarely, children have suffered harm or died when the system failed to detect and provide proper and timely medical care for their condition. Although not all delayed diagnoses or treatment resulted in harm or death, all raise concerns because they represent a failure of a system intended to prevent illness and death.

Delayed diagnosis or treatment does not necessarily imply fault with the design or operation of the screening system. For example, delay can result from a biologic variant that a screening program cannot be reasonably expected to detect. A “miss” also might result from a disastrous disruption of part of the system, such as with the September 11 events. There is currently no organized monitoring of delayed diagnoses/missed cases that occur during newborn screening.

A previous study (Holtzman et al. Pediatrics 1986;78:553-558) detailed the causes of missed cases of phenylketonuria and congenital hypothyroidism through 1983. This is the only comprehensive study to have addressed this issue and the subject has not been examined since that time. The proposed study will gather more current, detailed and useful data than what is currently available. We will collect information to update Holtzman’s work and expand it to cover additional disorders for which at least 10 states screen. Our study will identify and classify the causes of delayed diagnosis and treatment (missed cases) that occurred during the years 1984 to 2004. We plan to use this information to provide guidance for developing an ongoing quality assurance program to monitor missed cases in state newborn screening programs. This quality assurance program will be used to help screening laboratories change their procedures and policies to reduce the number of missed cases that occur. It should also document the progress that has been made in improving timely detection of cases since 1983.

This study will solicit information about missed cases from many sources, such as laboratory directors, follow-up coordinators, metabolic clinics, and parent groups. We ask you to assist with this study by providing us with any information you may have about cases of delayed diagnoses or treatment that occurred from 1984 and 2004. A short Case Report Form is included with this letter. This form should take approximately 10 minutes to complete for each case. Please copy the form before you complete it and use a separate Case Report Form for each case. Do not report cases that you know have already been reported to us by someone else. Please send the first page (State Form) back even if you have no cases to report.

Because information about missed cases is sensitive and is not without its liabilities, we will take several steps to protect your privacy and the privacy of the patients. First, the survey will not request personal identifiers, such as your name, the name of patients or their families, patient’s date of birth, or location. Second, we will not retain any information that could identify an individual or state. The information collected will be destroyed after the data are compiled and analyzed. Third, only study staff will have access to the records. Finally, all study records will be kept in locked files. No identifiers will appear in any publications or presentations that result from this study.

Participation in this study is voluntary. Refusal to participate involves no penalty. You may discontinue participation at any time without penalty. This letter functions as informed consent; we will take the return of this data collection form as your consent to be a part of this study.

If you have any questions about how the study works, please contact L. Omar Henderson, at (770) 488-7972. If you have questions about your rights as a participant in this research study or believe you have been injured by this study, please contact the office of CDC’s Deputy Associate Director for Science at (800) 584-8814. Please leave a brief message including your name and phone number, and mention that you are calling in reference to CDC protocol # 3618. Someone will return your call as soon as possible.

We hope you will help us to review and enhance newborn screening systems by submitting information about delayed diagnosis and treatment. A State Form, a Case Report Form, and a prepaid envelope are included with this letter. Please complete a separate Case Report Form for each case. Please return the State Form even if you have no cases to report.

Please return the form(s) by [insert date]. If you have any questions, do not hesitate to call.

Thank you for your help!

Sincerely,

L. Omar Henderson, Ph.D.; CDC

Lisa Kalman, Ph.D.; CDC

L. Omar Henderson,Ph.D.

Harry Hannon, Ph.D.; CDC

Scott Grosse, Ph. D.; CDC

Brad Therrell, Ph.D.; NNSGRC Centers for Disease Control and Prevention

Kenneth Pass, Ph.D 4770 Buford Highway, N.E., Mailstop F-43

Atlanta, GA 30341-3724 (770) 488-7972 (phone)

(770) 488-4255 (fax)