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 parents of children identified as heterozygote carriers for cystic fibrosis (CF) in the routine Wisconsin Newborn Screening Program that was implemented using 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 tests at 1 of the Wisconsin's 2 certified CF centers. The Wisconsin Division of Health sent requests to participate to the parents of 483 infants identified as CF carriers between July 1994 and December 1997. Of the 483 parents, 183 agreed to participate and were asked to complete a questionnaire assessing their CF newborn screening experiences and their knowledge of CF genetics 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 completed the questionnaire. Subsequently, 123 of the 138 responders (89%) were contacted and interviewed by telephone. We learned that 67.6% of parents recalled receiving genetic counseling, but 32.4% of parents apparently did not participate in a risk communication session. When asked, "Who performed the genetic counseling?" parents indicated that their communication was with physicians in 8% of cases, nurses in 12.4%, and certified genetic counselors in 32.8% of cases; 17.5% of parents did not recall who performed the genetic 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 the CF gene. Only 57% of parents knew there was a 1 in 4 chance that their child could have a child with CF if he or she reproduced with another carrier of the CF gene. Statistically significant differences were noted when comparing the frequency of correct responses between parents who received genetic counseling and parents who had not. The frequency of accurate responses did not depend on which health care professional provided the genetic counseling. Comparing responses of parents who were seen at a certified CF center with parents seen at other community hospitals and clinics revealed significant differences in the frequency of correct responses, with the former group showing a higher percentage of correct responses. Telephone interviews revealed that 11.4% of parents were unaware that their child was a carrier 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 physicians be better informed of the details and implications of positive screening results for CF.

CONCLUSION: Genetic counseling is imperative for the success of newborn screening for CF and other congenital diseases. With the completion of the Human 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 communicate newborn screening results effectively to families. In addition, both the general public and community health providers must be better informed of the implications of all newborn screening results. Additional research is needed to determine whether there are communication styles and approaches that are better suited to counseling parents regarding newborn screening results.