Pennsylvania Code
Pennsylvania Code & Bulletin
COMMONWEALTH OF PENNSYLVANIA

• No statutes or acts will be found at this website.

The Pennsylvania Bulletin website includes the following: Rulemakings by State agencies; Proposed Rulemakings by State agencies; State agency notices; the Governor’s Proclamations and Executive Orders; Actions by the General Assembly; and Statewide and local court rules.

PA Bulletin, Doc. No. 22-1219

NOTICES

DEPARTMENT OF HEALTH

Change to the Cystic Fibrosis Screening Algorithm

[52 Pa.B. 5010]
[Saturday, August 13, 2022]

 The Division of Newborn Screening and Genetics (DNSG), with support of the Newborn Screening and Follow-up Technical Advisory Board and its cystic fibrosis (CF) subcommittee, is modifying the current CF screening algorithm and incorporating Next Generation Sequencing (NGS) effective October 1, 2022. This algorithm change will reduce the number of client referrals for follow-up sweat testing and evaluation through the DNSG's contracted CF treatment centers.

 Under the new algorithm, the addition of NGS will allow the DNSG and the contracted newborn screening laboratory, PerkinElmer Genetics, to confidently report cases with elevated Immunoreactive Trypsinogen, but zero or one mutation discovered on NGS, as no longer requiring a referral to a CF treatment center for sweat testing and follow-up with a specialist. The parents or legal guardians of babies determined to have a single CF mutation by means of NGS will be contacted by their local CF treatment center by letter and receive educational materials on what it means to be diagnosed as a CF carrier. Families will also be provided contact numbers for their local CF treatment centers should they wish to pursue genetic counseling or familial screening.

 CF is currently a condition listed on the supplemental conditions panel mandated for screening by submitters in this Commonwealth. The addition of NGS to the CF algorithm will increase the cost of the supplemental mandated panel from $39.80 to $41.72 per newborn and will be invoiced to submitters by PerkinElmer Genetics.

 For additional information, contact Jordan Shover, Public Health Program Manager, Division of Newborn Screening and Genetics, at (717) 783-8143. Speech and/or hearing-impaired persons use V/TT (717) 783-6514 or the Pennsylvania Hamilton Relay Service at (800) 654-5984 (TT).

DR. DENISE A. JOHNSON, 
Acting Secretary

[Pa.B. Doc. No. 22-1219. Filed for public inspection August 12, 2022, 9:00 a.m.]


No part of the information on this site may be reproduced for profit or sold for profit.

This material has been drawn directly from the official Pennsylvania Bulletin full text database. Due to the limitations of HTML or differences in display capabilities of different browsers, this version may differ slightly from the official printed version.