Newborn Screening for Cystic Fibrosis in New York State: In Reply

Abstract

We are happy to reply to the letter to the editor submitted by Drs Caggana and Helton. The purpose of writing our article was to report on cystic fibrosis (CF) newborn screening in a state with an ethnically diverse population, to make recommendations to improve the sensitivity of the screening algorithm, and to help physicians in states that are in the planning stages of a CF newborn screening program to address some of the problems that we encountered.In reference to the absence of a “state coordinator,” we fully agree that the Wadsworth Center has a well established team to provide assistance related to the newborn screening program. However, in our article, we were referring to the fact that there is no funding to support a coordinator to facilitate the referral of screen-positive infants to regional CF care centers, where a diagnostic sweat test can be performed. Other states, such as Massachusetts, have developed funding mechanisms to support such a position, which has facilitated making contact with screen-positive infants and assuring timely sweat testing.1 It is our opinion that developing a funding source for such a position would be an effective intervention to help resolve the large number of cases that have been lost to follow-up in New York. We recommend that any state that is in the planning stage of a CF newborn screening program consider the benefit of establishing such a position.With regard to reimbursement for genetic counseling services, we acknowledge that the New York State Department of Health provides funding to many hospitals in the state for genetic counseling services. However, the CF care centers, where the bulk of the counseling and coordination for follow-up of positive CF-screened infants occurs, do not receive any funding to help defer the cost of additional time committed by staff members to ensure that the screening program runs effectively. Other states, such as New Jersey (R. Zanni, MD, personal communication, April 2007), have been successful in acquiring additional funding for the CF care centers to help pay for the manpower needs of their screening program. Once again, we recommend that any state that is in the planning stage of a CF newborn screening program consider a mechanism to generate additional funds for this purpose.We acknowledge that the Wadsworth Center performs repeat specimen testing. However, in our article we raised the issue of developing a mechanism to accept a repeat immunoreactive trypsinogen (IRT) result at 2 weeks of age to close a case without the need for a referral for a sweat test. The screening program in Colorado collects a repeat specimen obtained at 2 weeks of age. We believe that accepting a repeat IRT at 2 weeks of age could be a solution to the high false-positive rate that we have experienced in New York State during the first 2½ years of screening for CF.2 The large number of screen-positive infants with an elevated IRT and no CF mutations detected would be suitable for requesting repeat IRT testing.We acknowledge that currently in New York State the intron-8 polymorphism is reported whenever the R117H mutation is detected. However, the issue that we raised in our article was whether 7T/9T polymorphisms should be reported as screen-positive. In view of the high frequency of R117H-7T identified by CF newborn screening, the uncertain outcome of the asymptomatic children, and physicians' difficulty in managing these situations, Scotet et al3 proposed the withdrawal of the R117H variant from the panels of CF transmembrane conductance regulator (CFTR) mutations used in CF newborn screening. Any state that is planning a CF newborn screening program must be aware that “[u]se of mutations associated with milder phenotypes may lead to results that are difficult to interpret.”4 We acknowledge that this is a controversial issue that needs to be considered by states that are in the planning stages of a CF newborn screening program.We fully agree with the general strategy of proceeding in a conservative manner; however, we support the recommendation of the Centers for Disease Control and Prevention report on newborn screening for CF: “states that implement newborn screening for CF should collect follow-up data in collaboration with CF care centers and analyze this information to monitor and improve the quality of CF newborn screening.”5 Such an annual-review mechanism would facilitate making adjustments to the screening algorithm with the goal of improving the sensitivity of the program. We are happy to report that in New York State we currently have monthly conference calls and have annual meetings planned.