Abstract
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.
- CF =
- cystic fibrosis •
- IRT =
- immunoreactive trypsinogen •
- CFTR =
- cystic fibrosis transmembrane regulator
Neonatal screening for genetic disease is intended to reduce childhood morbidity and mortality through early identification and treatment of affected infants. Of the various congenital disorders included in this and other countries, screening for 2 autosomal recessive diseases (sickle cell anemia and cystic fibrosis [CF]) identifies heterozygote carriers in addition to affected infants. For sickle cell anemia, evidence suggests that communicating carrier or trait status to parents of heterozygote infants is of uncertain value and may cause undue anxiety in the absence of proper counseling.1,2 The same concern has been applied to CF screening based on previous reports.3,4 The effectiveness of screening programs usually is measured in terms of test characteristics such as sensitivity, specificity, and positive predictive value. Yet no screening program can be truly effective unless the consequences and implications of all possible test results are explained to parents. A recent survey by Farrell et al5 found that among newborn screening programs in the United States, 74% routinely provide genetic or other risk communication, and 66% of programs indicated that they always provide such counseling. Very few newborn screening programs have systems in place to assess the quality of the communication process or possible outcome measures of counseling.5
Satisfaction with genetic counseling6 and perceived personal control7 have been surveyed as possible outcome measures of genetic counseling in the context of pediatric and prenatal counseling sessions. Likewise, the effectiveness of genetic counseling for hereditary cancers has been reviewed.8–11 To our knowledge, little is known from systematic investigation about the effectiveness of the communication and counseling process associated with newborn screening.
In the era of gene identification, newborn screening programs are likely to adopt more molecular modalities for screening various childhood diseases in the early 21st century. Identifying successful counseling strategies is imperative for the long-term success of newborn screening programs. The ongoing Wisconsin Cystic Fibrosis Neonatal Screening Project has given us the opportunity to analyze the communication between various health professionals and parents of children who have been identified as heterozygote carriers for CF. Based on a previous report,12 this counseling and communication session is subject to misunderstanding and misinterpretation. To learn more about the process and results of counseling in a routine CF neonatal screening program, we surveyed families who had undergone such genetic counseling in a variety of statewide settings in an attempt to correlate understanding (or misunderstanding) with aspects of the risk communication process.
METHODS
The design of the Wisconsin Cystic Fibrosis Neonatal Screening Project is described in detail elsewhere.13–15 The 2-tiered screening approach involving immunoreactive trypsinogen (IRT) and analysis of the CF transmembrane regulator (CFTR) gene for the presence of the ΔF508 allele has also been described.16,17 After completion of the randomized screening phase of our studies, the State of Wisconsin implemented routine CF neonatal screening in July 1994, when predetermined criteria were met.18,19 IRT/DNA testing occurs using the dried newborn blood specimen used for other screening tests and obtained after parents are given a brochure that explains the tests and associated genetic conditions, including the possibility of identifying CF heterozygote carriers. Parents are given opportunities to ask questions, and unless they refuse a blood specimen is collected and sent to the centralized Wisconsin Newborn Screening Laboratory. This process of implied consent is typical of newborn screening programs in the United States. From July 1994 to December 1997, screening of 232 889 newborns identified 483 infants who had false-positive newborn screens, defined as an elevated IRT and the presence of 1 ΔF508 mutation but a normal sweat test. Therefore, these infants are CF heterozygote carriers and accounted for 0.2% of the total screened. Immediately after the sweat test, a communication session occurred with the parents that included a description of the sweat chloride result and its interpretation, information about the genetics of CF, an offer to arrange additional CFTR analysis in parents and family members, and information about the implications of CF heterozygote status for additional reproduction.
Each family was asked through a later mailing by the State Division of Health to complete a questionnaire. A total of 183 (38%) of the false-positive families agreed to participate, and a questionnaire was mailed out in October 1998. This 6-page questionnaire assessed a limited amount of relevant demographic information (eg, geographic location and parents' educational background); the details of the parents' newborn screening experience (eg, who, if anyone, provided counseling, where the counseling took place); their knowledge of the newborn screening results and the genetics of CF; the impact of their experiences on parental carrier testing and family planning; the psychological impact of counseling; and the effect (if any) of the screening results on insurability. In addition, the questionnaire asked the parents whether they wanted to be contacted to clarify misunderstandings or answer questions; if so, they simply checked off an item on the form.
Because Wisconsin has 2 certified CF centers, we were able to compare the frequency of correct responses in parents seen at a certified CF center with responses from parents seen at other hospitals and clinics throughout Wisconsin. This opportunity emerged because as the routine CF neonatal screening program was implemented in the summer of 1994, it was recommended but not mandated that follow-up sweat testing be performed at the Madison or Milwaukee CF Center. Although the other sites were not certified CF centers, most of them had genetic counselors available and were expected to provide counseling about the genetics of CF, the opportunity for additional CFTR mutation analysis in parents and extended family members, and the implications of heterozygote status in future reproduction.
To clarify misunderstandings and learn more about the newborn screening experience, a certified genetic counselor (D.J.C.) attempted to contact by telephone all parents who completed the initial questionnaire. When telephone numbers were not available, the Department of Transportation was used to obtain driver's license information and recent addresses of participants who had changed residence or phone number since the questionnaire had been sent out. This was done to make every effort to contact parents with misunderstandings, as expected by our institutional review board. During the telephone interviews, parents were given an opportunity to ask questions and to receive clarification on issues related to CF and the questionnaire. In addition, parents were asked structured questions about their experience with the CF Newborn Screening Program and were asked for suggestions on how to improve the process. Questions in the telephone interview included how soon parents were notified of the positive newborn screen result after the birth of their infant, how much time elapsed between learning the newborn screening result and undergoing the sweat test, which health care providers gave them the most beneficial information, whether the parents received any written information about the implications of the positive newborn screen result, and what they would do to improve the newborn screening process.
This project was approved by the Human Subjects Committee of the University of Wisconsin. A second approval was obtained to perform the follow-up telephone calls. Data were analyzed statistically using Fisher's exact test (2-tailed).
RESULTS
Data From Questionnaire
After 4 months, 138 (75%) of 183 families returned a completed questionnaire. The average age of the children at the time the questionnaires were returned was 2.63 years (median: 2.62 years; range: 0.89–4.45 years). The average interval between the sweat test revealing carrier status and the return of questionnaires was 2.49 years. Of those who completed the questionnaire, 87.6% (120/137) were mothers of the child with the false-positive newborn screening result, 5.8% were fathers, and 6.6% of the questionnaires were completed by both parents. None had a prior family history of CF. The educational background of parents completing the questionnaire was diverse, with the highest attained level of education distributed as follows: 2.2% attended but did not complete high school, 15.4% graduated from high school, 23.5% attended but did not complete college or vocational school, and 58.8% graduated from college or vocational school. This distribution reveals that the respondents were better educated than a comparable population of Wisconsin young adults, where the corresponding percentages are 16.6, 35.7, 24.4, and 23.1% (data on mothers giving birth in 1994). The percentage of correct responses to questions was shown to be statistically independent of educational background. For example, when asked to answer “true,” “false,” or “unsure” to the statement “Being a cystic fibrosis carrier may cause illness,” parents with a high school education answered “true” 70.8% of the time, and parents with a college or postgraduate education answered “true” 82.9% and 81.8% of the time, respectively (P = .62).
Parents were asked whether they received genetic counseling as part of their child's sweat test experience; genetic counseling was defined as “providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.” This question was worded explicitly to distinguish receipt of genetic counseling from an offer to provide it. The responses revealed that 67.6% (92/136) of parents recalled having received genetic counseling at the time of their child's sweat test, and 32.4% (44/136) indicated they had not received genetic counseling. Table 1describes parental knowledge about the implications of the child's carrier status for the child and the family. These responses were stratified based on whether parents had received genetic counseling. Because several responders indicated that they had not received genetic counseling but did report meeting with a nurse or physician for genetic counseling at the time of the sweat test, we stratified our population in the following way. Parents who met with a genetic counselor, nurse practitioner, or physician were considered to have had genetic counseling. All others were placed in the “did not receive genetic counseling” group. The rationale for combining the 3 categories of health care providers is that they were all instructed to provide the same information in communication sessions with parents. In addition, our analysis of responses revealed that the proportion correct did not depend on which health care professional provided the genetic counseling. These results, comparing those who received genetic counseling with those who did not, are summarized in Fig 1. The data clearly show that for most questions, there is a statistically significant difference between the 2 groups. Those who received genetic counseling have a much higher percentage of correct responses (Fig 1).
Knowledge About Genetics of CF in Families With Carrier Infants
Correct response rate for 7 questions answered by parents who received genetic counseling (by a nurse, physician, or genetic counselor) or did not experience a risk communication session. There were 92 of 136 parents who recalled receiving genetic counseling and 44 of 136 parents answering this question who did not have any recollection of having received genetic counseling. Percentages showing the proportion of correct responses are based on the numerators of 92 and 44 parents, respectively. P values for each question are given.
Of the 138 participants, 88 (63.8%) received their care (sweat test and genetic counseling, if performed) at 1 of the 2 certified CF centers in Wisconsin, whereas 50 (36.2%) received care at a hospital or clinic other than a certified CF center. Parents who were seen and whose child had a sweat test at a certified CF center had a statistically significant higher rate of correct responses than parents seen at other hospitals and clinics. These results are summarized inFig 2. For example, when asked to answer “true,” “false,” or “unsure” to the statement “Our child is a carrier of the CF gene,” 95.4% of parents seen at a CF center answered correctly, whereas 76% of parents seen at other institutions answered correctly (P < .002). The decision to undergo parental carrier testing was independent of whether parents were seen at a CF center. Likewise, no significant differences were seen in reproductive plans based on whether parents were seen at a CF center or other hospital or clinic.
Correct response rate for 7 questions answered by parents who received their care (sweat test and counseling) at a certified CF center compared with parents receiving care at noncertified hospitals or clinics. There were 88 of 138 respondents whose infant received the newborn screening follow-up assessment at a CF center and 50 of 138 who did not. Percentages showing the proportion of correct responses are based on the 88 and 50 parents who responded. P values for each question are given.
Table 2 summarizes parental knowledge of the risk of CF occurring in their grandchildren. To determine whether the health professional providing the genetic counseling affected the accuracy of parental responses, we stratified our population based on whether parents had seen a physician, nurse, or genetic counselor at the time of the sweat test. The accuracy of the responses was independent of the type of health professional providing the counseling. For example, when asked to answer “true,” “false,” or “unsure” to the statement “Our child is a carrier of the CF gene,” 90.9% of parents counseled by a physician answered “true,” 94.1% of parents counseled by a nurse answered “true,” and 100% of parents counseled by a genetic counselor answered “true” (P = .095). However, a review of the medical records at our institution revealed that 22% (8/36) of parents incorrectly reported seeing a genetic counselor when the counseling was provided by a nurse practitioner. Only 11% (4/36) of parents accurately reported seeing a nurse for genetic counseling when they were counseled by a clinical nurse specialist. Therefore, the number of parents counseled by genetic counselors is likely to be falsely elevated.
Knowledge of Recurrence Risk of CF in Families With Carrier Infants (n = 128)
After the CF neonatal screening experience (including the negative sweat test), we found that 41 of 138 (29.7%) of both parents elected to pursue carrier testing. In addition, some parents elected to test 1 member of the couple initially rather than testing both parents. In these cases, 41.9% of mothers and 33.8% of fathers pursued CF carrier testing, and this decision appeared to depend on whether parents received genetic counseling (P < .001). Of the mothers tested, 35.7% were identified as carriers of the ΔF508 mutation, and of the fathers tested, 56.5% were identified as carriers. Parents who underwent CF carrier testing but were not identified as carriers of the ΔF508 mutation were asked which of the following statements is correct: “I am definitely not a carrier of CF” or “There is a small chance that I am a carrier of CF”; 44.1% of tested parents answered correctly, and 55.9% incorrectly indicated that they were “definitely not a carrier of CF.”
When asked, “Has the knowledge of your child's CF carrier status caused you to change your reproductive plans?” 78.7% (107/136) of parents answered “no,” 16.2% (22/136) answered “yes,” and 5.1% (7/136) answered “unsure.” Of the parents who answered “yes” to this question, 31.8% indicated that they chose to have more children, 36.4% chose to have no more children, and 9% reported that they would use prenatal diagnosis in subsequent pregnancies. Table 3 summarizes parental attitudes and emotions about the knowledge that their child is a carrier for CF. The majority felt better informed and were glad to be aware of their child's CF carrier status. The majority were not confused or experiencing feelings of guilt.
Parental Attitudes Toward the Knowledge of Child's Carrier Status (n = 135)
Prenatal testing for CF was used by 14.3% of parents in a subsequent pregnancy. In 1 family, prenatal testing was used in 2 subsequent pregnancies. Parents were asked whether they experienced any health insurance problems as a result of their child's CF carrier status. Of 26 cases in which the insurance company was notified of the child's status, 5 reported having some difficulties as a consequence of having this information disclosed. Two other families who did not inform their insurance company about the child's carrier status also reported difficulties. The remaining 108 families did not inform their insurance company and did not experience any problems.
When asked, “Do you think newborn screening for CF should be done?” 85.5% (118/138) of parents answered “yes,” and 13.8% (19/138) answered “no.” Only 1 set of parents (0.7%) was unsure about their opinion on this issue.
Information From Telephone Interviews
Follow-up, structured telephone interviews by a certified genetic counselor were conducted with 123 of 138 (89.1%) parents who completed the questionnaire. The remaining 15 participants could not be interviewed because of unlisted phone numbers or the absence of a current residency listing. Descriptive data from these follow-up interviews revealed that 11.4% of parents were unaware that their child was a carrier for CF; the follow-up phone interview was the first time parents had learned of their child's carrier status. These parents had not received genetic counseling and recalled that their child's primary care physician told them that the newborn screen was a “false-positive” but did not mention that their child was a CF carrier. The average time at which parents were initially informed of the positive CF result on the newborn screen was 3.24 weeks after the birth of the child. The average time elapsing between the initial notification of the newborn screen results and the sweat test was 2.49 weeks.
Responses indicated that 51.2% of parents remembered receiving a brochure or pamphlet at the time of the sweat test. When asked, “How should we improve the newborn screening process?” 54.5% of parents replied that they wished they had had more background information about the implications of the screening result earlier, before bringing their child for the sweat test. Although only 22.8% suggested decreasing the waiting time to have a sweat test, a majority of responders indicated that the waiting was the worst part of the experience. We also learned that 13.8% felt that community physicians (pediatricians and family physicians) needed better education about the implications of a positive newborn screen for CF to be able to explain the possible consequences more effectively to parents.
DISCUSSION
Inherent in a retrospective study of this type is a certain amount of recall bias. This bias can present a problem in accurately assessing the effectiveness of the initial counseling process. Our results also point out the fact that many parents are not clear on the roles or titles of certain health professionals involved in the care of their child. Although this may be a form of recall bias, it seems more likely that parents simply are not aware of the differences between health care providers such as nurses and genetic counselors. This conclusion is in accord with our observations in routine clinics here when teams of caregivers are involved. Despite the existence of some recall bias, this study provides a unique insight into how genetic counseling for CF neonatal screening occurs in community settings when implemented on a routine clinical (nonresearch) basis.
Another concern about our study design is the possibility of response bias, particularly in view of the fact we were able to sample only 28% of the false-positive families who have a child carrying 1 ΔF508 allele. This was unavoidable because the Wisconsin Division of Health and our Human Subjects Committee restricted us to mailing an inquiry to the parents' last known address, asking them whether they wanted to receive a questionnaire, and, if so, asking them to mail us a notification card (which 183/483 parents did within 4 months). When we received the card, it was our first specification of identity and address. We then sent them questionnaires and received 138 responses (75% of the 183 mailed to parents). Because we do not have demographic information on the 345 nonresponders, it is not possible to eliminate a response bias, and this is a shortcoming of our study. We do know that the respondents are not representative of Wisconsin's young adult population with regard to education level. More than twice as many respondents are college graduates compared with overall Wisconsin data. On the other hand, the proportion of correct responses to questions was not correlated with the educational level of the respondents.
Despite this high level of education, our findings support previous evidence that information provided in counseling sessions about the implications of false-positive newborn screen results is subject to misunderstanding by families.12 In addition, this study through telephone interviews suggests that some degree of misunderstanding occurs at the level of community physicians. Although informational pamphlets normally are distributed to parents at the time of the sweat test, it appears based on parental requests that educational materials should be made available earlier and disseminated throughout community clinics. Educational programs must be in place for both the lay public and health care providers regarding the implications of newborn screening programs, especially with the trend toward more molecular-based approaches.
When we implemented routine CF neonatal screening in Wisconsin during the summer of 1994, we expected that CF centers would be used predominantly for sweat tests and that genetic counseling would occur almost invariably. However, this did not occur until 1998, and thus we had an unanticipated opportunity to compare a variety of follow-up situations. Based on our results, genetic counseling clearly benefits families with false-positive screening results. The results shown inFig 1 clearly reveal the value of genetic counseling as an information transferring tool. Furthermore, Fig 2 demonstrates the benefit of obtaining care from a certified CF center where genetic counseling is a routine part of a family's comprehensive care. However, obstacles persist that appear to decrease the likelihood of complete comprehension. These obstacles include the difficult concept of relative risk perception, anxiety at the time of genetic counseling, possible time constraints on retention of information, and possibly poor matching of counseling styles to parental understanding. This study also confirms that parental reproductive plans are influenced by the identification of a child who is a carrier of a mutated CFTR gene. This finding further demonstrates the need for accurate counseling about heterozygote status.
CONCLUSION
Our results clearly demonstrate a need for genetic counseling in the context of newborn screening. Programs looking to implement newborn screening for CF or other neonatal diseases should ensure that counseling is available to parents so that they receive accurate and appropriate information about screening results. In addition to increasing public awareness of the newborn screening process for CF, efforts should be made to define effective counseling strategies and determine what (if any) counseling approach is best-suited for efficient and effective communication of newborn screening results to parents. These efforts should take into account the parents' previous knowledge, matching parental needs with different communication methods and styles, ensuring parental engagement in the counseling session, and avoiding distractions and emotional disruptions. As additional genetic diseases are incorporated into newborn screening programs, the medical community must be prepared to handle both the new testing modalities and the challenge of communicating this information to parents. Various models of counseling should be studied prospectively. Previous reports have estimated the effective counseling time needed to meet the demands generated by newborn screening programs.20 It is clear that in our current health care system, providers other than genetic counselors (such as nurses and physicians) must be trained using new methods to adequately handle the increased demand for information resulting from the Human Genome Project.
ACKNOWLEDGMENTS
We thank Dr Norman Fost, University of Wisconsin Department of Pediatrics, for suggestions on the content of the questionnaire developed for this project and Dr Mark Splaingard, Milwaukee CF Center Director, for his leadership efforts and support of the Wisconsin CF Neonatal Screening Program. We are deeply grateful to the excellent staffs of the Madison and Milwaukee CF Centers (especially the nurses in Madison [M. Harrison, K. Allaire, and D. Pfeil] and Milwaukee [C. McCarthy and M. Freeman] and the genetic counselors in Madison [P. Modaff and C. Reiser] and Milwaukee [C. Sauer]) and the Wisconsin State Laboratory of Hygiene's Newborn Screening Program (especially Gary Hoffman). We also thank Peter Falk for excellent assistance with the telephone interview.
Footnotes
- Received December 14, 1999.
- Accepted July 31, 2000.
Reprint requests to (P.M.F.) University of Wisconsin Medical School, Room 1217 Medical Sciences Center, 1300 University Ave, Madison, WI 53706. E-mail: pmfarrel{at}facstaff.wisc.edu
REFERENCES
- Copyright © 2001 American Academy of Pediatrics
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