Genetic counseling and neonatal screening for cystic fibrosis: An assessment of the communication process

Objective. To assess the effectiveness of communication between health care providers (physicians, nurses, genetic counselors) in Wisconsin and parent s of children identified as heterozygote carriers for cystic fibrosis (CF) in the routine Wisconsin Newborn Screening Program that was implemented usi ng trypsinogen/DNA testing. Methods. Routine CF neonatal screening, implemented in July 1994, involved a statewide system that recommended but did not mandate follow-up sweat tes ts at 1 of the Wisconsin's 2 certified CF centers. The Wisconsin Division o f Health sent requests to participate to the parents of 483 infants identif ied as CF carriers between July 1994 and December 1997. Of the 483 parents, 183 agreed to participate and were asked to complete a questionnaire asses sing their CF newborn screening experiences and their knowledge of CF genet ics and any changes they made in their reproductive behavior as a result of this knowledge. Follow-up telephone interviews by a genetic counselor were attempted within 1 year for those completing the questionnaire. Results. Within 4 months after the mailing, 138 of 183 (75%) parents comple ted the questionnaire. Subsequently, 123 of the 138 responders (89%) were c ontacted and interviewed by telephone. We learned that 67.6% of parents rec alled receiving genetic counseling, but 32.4% of parents apparently did not participate in a risk communication session. When asked, "Who performed th e genetic counseling?" parents indicated that their communication was with physicians in 8% of cases, nurses in 12.4%, and certified genetic counselor s in 32.8% of cases; 17.5% of parents did not recall who performed the gene tic counseling and 29.2% of parents indicated they did not receive genetic counseling. Based on the 138 responses, it was found that 88.3% of parents understood that their child was a carrier for CF, but 15.4% of parents were unsure whether being a carrier could cause illness. In addition, 12.4% of parents were unsure whether at least 1 of them (parents) was a carrier of t he CF gene. Only 57% of parents knew there was a 1 in 4 chance that their c hild could have a child with CF if he or she reproduced with another carrie r of the CF gene. Statistically significant differences were noted when com paring the frequency of correct responses between parents who received gene tic counseling and parents who had not. The frequency of accurate responses did not depend on which health care professional provided the genetic coun seling. Comparing responses of parents who were seen at a certified CF cent er with parents seen at other community hospitals and clinics revealed sign ificant differences in the frequency of correct responses, with the former group showing a higher percentage of correct responses. Telephone interview s revealed that 11.4% of parents were unaware that their child was a carrie r for CF and that 54.5% wished they had more information made available to them at the time of the initial positive newborn screen result, before the definitive sweat test. Also, 13.8% of parents recommended that community ph ysicians be better informed of the details and implications of positive scr eening results for CF. Conclusion. Genetic counseling is imperative for the success of newborn scr eening for CF and other congenital diseases. With the completion of the Hum an Genome Project, more molecular screening for childhood disease is bound to enter the clinical arena. Based on our findings, efforts must be made to ensure that newborn screening programs have the means and the methods to c ommunicate newborn screening results effectively to families. In addition, both the general public and community health providers must be better infor med of the implications of all newborn screening results. Additional resear ch is needed to determine whether there are communication styles and approa ches that are better suited to counseling parents regarding newborn screeni ng results.