Journal of Genetic Counseling, Vol. 4, No. 3, 1995
Newborn Screening for Cystic Fibrosis: Educational Implications John Rae 1 and Michael W. Partington 2
We examined the educational implications of newborn screening for cystic fibrosis (CF) as performed by combining the measurement of immunoreactive trypsin with analysis for the most common CF mutation, AF508. Four out of 77 (5%) of maternity staff from 11 hospitals in rural New South Wales, Australia had learned about the salient features of the screening protocol from a pamphlet distributed from a central laboratory. In comparison, a didactic lesson resulted in a significantly greater (p < 0.00006) number of maternity staff learning about the salient features of the screening protocol. Most maternity staff expanded their explanation to parents of newborn babies because of the didactic lesson. KEY WORDS: cystic fibrosis; newborn screening; educational implications; parental anxiety.
INTRODUCTION
Newborn screening in New South Wales and the Australian Capital Territory, Australia is voluntary but routine. Essentially all newborn babies are screened for cystic fibrosis (CF), phenylketonuria, congenital hypothyroidism, and galactosemia. Newborn screening for cystic fibrosis commenced in July 1981 (Wilken et al., 1985). Immunoreactive trypsin (IRT) was assayed in dried blood spots collected on filter paper. In January 1993 a two-tiered method was introduced using measurements of IRT as before followed by analysis for the most common CF mutation, AF508, in 1Tamworth Health Service, 180 Peel Street, Tamworth, NSW 2340, Australia. 2Regional Medical Genetics Unit, P.O. Box 84, Waratah, NSW 2298, Australia. 3Correspondence should be directed to John Rae, Genetic Counsellor, Tamworth Health Service, 180 Peel St., Tamworth, NSW 2340 Australia. 193 1059-7700/95/0900-0193507.50/1 © 1995 National Society of Genetic Counselors, Inc.
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those with elevated IRT levels (Wilcken, 1993). A consequence of the new screening protocol is the detection of babies who are CF carriers (Spence et al., 1993). We have had experience with parents who suffered considerable anxiety because their baby was diagnosed as a CF carrier. This prompted us to conduct educational sessions on newborn screening for CF for the maternity staff (predominantly experienced midwives and registered nurses) of the rural hospitals that we serve. We hoped that education of those who do the heal prick would in turn lead to better informed and prepared parents. Comprehensive and carefully worded pamphlets informing maternity staff of the new DNA testing methods had already been distributed by the testing laboratory. These pamphlets were also distributed with each result indicating carrier status and possible disease status. We wanted to determine whether the distribution of these pamphlets had resulted in learning among the maternity staff, that is, whether they had received, read, understood, and acted on the material contained in the pamphlet.
METHOD
A voluntary but well attended educational session was conducted by one of us (JR) at each of the 11 rural hospitals that we are responsible for. The number of deliveries for these hospitals ranged from 15 to 1000 per year. Each session lasted 30 to 45 minutes, centered around a slide presentation and allowed for group discussion. Slides of a normal karyotype and an autoradiograph were particularly useful teaching aids. Content included a brief overview of the newborn screening program, an outline of the clinical manifestations of CF, an explanation of autosomal recessive inheritance, description of CF mutations and their frequency, and a description of the changes to the testing protocol. Seventy seven pre-tests and 84 post-tests were administered before and immediately after educational sessions. Pre-tests yielded information about whether the pamphlets had been read, and if so, whether the salient points of the pamphlet had been learned. We considered that the salient points were: knowledge of the changes to the screening protocol, knowledge that CF carriers are asymptomatic, and knowledge of a false positive rate. Parent education practices concerning blood collection for newborn screening were also determined. Post-tests contained the same questions about CF carriers being asymptomatic and the false positive rate as the pre-tests. In order to test the persistence of any changes in knowledge, a second round of post tests which included slightly more complex questions
Newborn Screening for Cystic Fibrosis
195
Table I. Pretest Results
n = 77 Saw pamphlet
19 (25%)
+ Read pamphlet
15 (19%)
+ Claimed knowledge of new protocol
8 (10%)
+ Understood CF carriers are asymptomatic
6 (8%)
+ Understood there is a false positive rate
4 (5%)
were sent to 81 participants 1-6 months after each educational session (three were omitted for reasons such as resignation).
RESULTS Results of the first pre-tests are shown in Table I. Nineteen out of 77 (25%) had seen the pamphlet and 15 (19%) had read it fully. In most hospitals there was at least one person who had seen the pamphlet, indicating that the distribution to the hospitals was sound. Of the 15 who had read the pamphlet fully, eight claimed to be knowledgeable about changes to the newborn screening protocol. Of these, six understood that CF carriers are asymptomatic, eight understood that there is a false positive rate, and four understood both these points. In summary, four out of 77 (5%) had read the pamphlet and were knowledgeable about its salient points. Examining the results of all of the first round of pre-tests, 28 out of 72 (39%) understood that CF carriers are asymptomatic (five omitted this question). Forty out of 71 (56%) understood that there is a false positive rate (six omitted this question). Tables II and III show the comparison of these results with those of the post-tests. After the educational session a significantly greater number knew that CF carriers were asymptomatic (p < 0.00006 by chi-square testing) and a significantly greater number knew that there is a false positive rate (p < 0.00006 by chi-square testing).
Table II. Change in Knowledge about CF Carrier Status*
Did understand CF carriers are asymptomatic Did not understand CF carriers are asymptomatic *p < 0.00006.
Pretest Post-test 28 82 44
2
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Rae and Partington
Table III. Change in Knowledgeof False Positive Rate* Pretest Post-test Did understand there are false positives 40 71 Did not understand there are false positives 31 12 *p < 0.00006.
Concerning parent education, 48 out of 56 to whom the question was relevant (86%) claimed that they already gave an explanation to parents about newborn screening. Fifty-two out of 56 (93%) did so at least some of the time. When asked if they intended changing their practices regarding newborn screening, given the information presented to them during the session, 64 out of 75 (85%) reported that they would expand their present explanation to parents. Sixty-two out of 81 (77%) of the second round of post tests were returned. Of these, questions about explaining newborn screening to parents were relevant to 53. This second round of post-tests showed that 28 out of 53 (53%) had expanded their explanation to parents about newborn screening and a further 20 (38%) reported that they will do so when the opportunity arises. This second round of post-tests showed that knowledge of CF carriers as asymptomatic persisted with 58 out of 61 (95%) choosing the correct response to that question (one omitted the question). Knowledge about the false positive rate appeared to decrease with only 38 out of 61 (62%) answering the question correctly (one omitted the question). However, this apparent decrease in knowledge may be incorrect since some respondents answered the question incorrectly but later indicated by their written comments that they had in fact retained the information.
DISCUSSION The IRT/DNA approach to CF newborn screening increases the specificity of the screening strategy (Spence et al., 1993) and decreases the number of false positives (Gregg et al., 1993). Spence (1993) and co-workers report that the IRT/DNA screening strategy has the potential to reduce parental anxiety. However, other psychological stressors may emerge as a result of receiving information about CF carrier status; information that many new parents may find difficult to comprehend. The fact that it is a 2-stage screening process (blood collection and then if necessary a sweat test) may serve to increase this stress. One 30-year-old client of ours described the diagnosis of carrier status in her newborn daughter as the most
Newborn Screening for Cystic Fibrosis
197
stressful event in her life, even more stressful than when her father died when she was 12. She reported: "I felt like an emotional w r e c k . . , disbelief, despair, uncertainty and h o p e . . . I suppose I still have trouble truly believing that she hasn't got CF". Our plan to ease parental anxiety by educating the maternity staff is in keeping with the suggestion by Tymstra (1986) who reported that the suspicion of thyroid deficiency was a great strain on parents of newborn babies tested for hypothyroidism. Both Tymstra (1986) and Marteau (1989) suggested that it may be possible to diminish adverse effects if the risk of a false positive result is fully explained at the outset. Testing for any reduced anxiety levels that may have occurred as a result of our educational program was beyond the scope of the present study. These results do suggest that the maternity staff have been adequately educated by a short, structured lesson that allowed time for discussion, that this method was far superior to pamphlet distribution, and that this new knowledge is being put into practice. Many of the rural hospitals that we surveyed were small and isolated, spread over an area of almost 100,000 km 2. We consider our peripatetic methods to be the key to providing education to such rural communities. Others have noted the disappointing results from pamphlets dealing with genetic information. In Finland, where aspartylglucosaminuria (AGU) is relatively common, only 34 out of 77 (44%) of AGU families were shown to have had read a mailed pamphlet that described the main data available on A G U (Keltikangas-Jarvinen et aL, 1983). The pamphlet distribution preceded by verbal information given by a physician led to relatively poor knowledge of AGU. Positive educational outcomes following didactic lessons have also been noted. For example, Brennan and co-workers (1992) showed that significant changes in knowledge about the genetics of CF can be achieved by a didactic educational program. Caution should be taken in generalizing these findings. We examined a unique situation. Presumably, the educational outcomes from the pamphlet in question are much better when the pamphlet is mailed with a report indicating that the baby is a CF carrier, given the relevance of the information at that time. Other pamphlets will have different target populations, different presentations and different messages. These findings do raise questions about the best methods of educating our nongenetic colleagues and our present and future clients about new genetic tests. The evaluation of other pamphlets purporting to provide genetic information would be recommended. It has been postulated that "As the Human Genome Project continues, tens if not hundreds of new genetic screening tests will compete for
198
Rae and Partington
introduction into routine clinical practice" (Elias et al., 1994). The educational implications require serious attention. REFERENCES Brennan M, Fine B, Pergament E, Minoque J (1992) Knowledge of and attitudes toward cystic fibrosis (CF) and carrier testing in a population at reproductive risk (abstract). J Genet Counsel 1(4):313-314. Elias S, Annas GJ (1994) Generic consent for genetic screening. N Engl J Med 330(22):16111613. Keltikangas-Jarv'inen L, Autio S (1983) Psychological obstacles to genetic education. Scand J Soc Med 11:7-10. Marteau T (1989) Psychological costs of screening. Br Med J 299:527. McCabe ERB (1991) Genetic screening for the next decade: Application of present and new technologies. Yale J Biol Med 64:9-14. Spence WC, Paulos-Thomas J, Orenstein DM, Naylor EW (I993) Neonatal screening for cystic fibrosis: Addition of molecular diagnostics to increase specificity. Biochem Med Metabol Biol 49:200-211. Tymstra T (1986) False positive results in screening tests: Experiences of parents of children screened for congenital hypothyroidism. Fam Pract 3(2):92-96. Wilcken B, Chalmers G (1985) Reduced morbidity in patients with cystic fibrosis detected by neonatal screening. Lancet 2:1319-1321. Wilcken B (1993) Newborn screening for cystic fibrosis: Its evolution and a review of the current situation. Screening 2:43-62.
Newborn Screening for Cystic Fibrosis: Educational Implications John Rae 1 and Michael W. Partington 2
We examined the educational implications of newborn screening for cystic fibrosis (CF) as performed by combining the measurement of immunoreactive trypsin with analysis for the most common CF mutation, AF508. Four out of 77 (5%) of maternity staff from 11 hospitals in rural New South Wales, Australia had learned about the salient features of the screening protocol from a pamphlet distributed from a central laboratory. In comparison, a didactic lesson resulted in a significantly greater (p < 0.00006) number of maternity staff learning about the salient features of the screening protocol. Most maternity staff expanded their explanation to parents of newborn babies because of the didactic lesson. KEY WORDS: cystic fibrosis; newborn screening; educational implications; parental anxiety.
INTRODUCTION
Newborn screening in New South Wales and the Australian Capital Territory, Australia is voluntary but routine. Essentially all newborn babies are screened for cystic fibrosis (CF), phenylketonuria, congenital hypothyroidism, and galactosemia. Newborn screening for cystic fibrosis commenced in July 1981 (Wilken et al., 1985). Immunoreactive trypsin (IRT) was assayed in dried blood spots collected on filter paper. In January 1993 a two-tiered method was introduced using measurements of IRT as before followed by analysis for the most common CF mutation, AF508, in 1Tamworth Health Service, 180 Peel Street, Tamworth, NSW 2340, Australia. 2Regional Medical Genetics Unit, P.O. Box 84, Waratah, NSW 2298, Australia. 3Correspondence should be directed to John Rae, Genetic Counsellor, Tamworth Health Service, 180 Peel St., Tamworth, NSW 2340 Australia. 193 1059-7700/95/0900-0193507.50/1 © 1995 National Society of Genetic Counselors, Inc.
194
Rae and Partington
those with elevated IRT levels (Wilcken, 1993). A consequence of the new screening protocol is the detection of babies who are CF carriers (Spence et al., 1993). We have had experience with parents who suffered considerable anxiety because their baby was diagnosed as a CF carrier. This prompted us to conduct educational sessions on newborn screening for CF for the maternity staff (predominantly experienced midwives and registered nurses) of the rural hospitals that we serve. We hoped that education of those who do the heal prick would in turn lead to better informed and prepared parents. Comprehensive and carefully worded pamphlets informing maternity staff of the new DNA testing methods had already been distributed by the testing laboratory. These pamphlets were also distributed with each result indicating carrier status and possible disease status. We wanted to determine whether the distribution of these pamphlets had resulted in learning among the maternity staff, that is, whether they had received, read, understood, and acted on the material contained in the pamphlet.
METHOD
A voluntary but well attended educational session was conducted by one of us (JR) at each of the 11 rural hospitals that we are responsible for. The number of deliveries for these hospitals ranged from 15 to 1000 per year. Each session lasted 30 to 45 minutes, centered around a slide presentation and allowed for group discussion. Slides of a normal karyotype and an autoradiograph were particularly useful teaching aids. Content included a brief overview of the newborn screening program, an outline of the clinical manifestations of CF, an explanation of autosomal recessive inheritance, description of CF mutations and their frequency, and a description of the changes to the testing protocol. Seventy seven pre-tests and 84 post-tests were administered before and immediately after educational sessions. Pre-tests yielded information about whether the pamphlets had been read, and if so, whether the salient points of the pamphlet had been learned. We considered that the salient points were: knowledge of the changes to the screening protocol, knowledge that CF carriers are asymptomatic, and knowledge of a false positive rate. Parent education practices concerning blood collection for newborn screening were also determined. Post-tests contained the same questions about CF carriers being asymptomatic and the false positive rate as the pre-tests. In order to test the persistence of any changes in knowledge, a second round of post tests which included slightly more complex questions
Newborn Screening for Cystic Fibrosis
195
Table I. Pretest Results
n = 77 Saw pamphlet
19 (25%)
+ Read pamphlet
15 (19%)
+ Claimed knowledge of new protocol
8 (10%)
+ Understood CF carriers are asymptomatic
6 (8%)
+ Understood there is a false positive rate
4 (5%)
were sent to 81 participants 1-6 months after each educational session (three were omitted for reasons such as resignation).
RESULTS Results of the first pre-tests are shown in Table I. Nineteen out of 77 (25%) had seen the pamphlet and 15 (19%) had read it fully. In most hospitals there was at least one person who had seen the pamphlet, indicating that the distribution to the hospitals was sound. Of the 15 who had read the pamphlet fully, eight claimed to be knowledgeable about changes to the newborn screening protocol. Of these, six understood that CF carriers are asymptomatic, eight understood that there is a false positive rate, and four understood both these points. In summary, four out of 77 (5%) had read the pamphlet and were knowledgeable about its salient points. Examining the results of all of the first round of pre-tests, 28 out of 72 (39%) understood that CF carriers are asymptomatic (five omitted this question). Forty out of 71 (56%) understood that there is a false positive rate (six omitted this question). Tables II and III show the comparison of these results with those of the post-tests. After the educational session a significantly greater number knew that CF carriers were asymptomatic (p < 0.00006 by chi-square testing) and a significantly greater number knew that there is a false positive rate (p < 0.00006 by chi-square testing).
Table II. Change in Knowledge about CF Carrier Status*
Did understand CF carriers are asymptomatic Did not understand CF carriers are asymptomatic *p < 0.00006.
Pretest Post-test 28 82 44
2
196
Rae and Partington
Table III. Change in Knowledgeof False Positive Rate* Pretest Post-test Did understand there are false positives 40 71 Did not understand there are false positives 31 12 *p < 0.00006.
Concerning parent education, 48 out of 56 to whom the question was relevant (86%) claimed that they already gave an explanation to parents about newborn screening. Fifty-two out of 56 (93%) did so at least some of the time. When asked if they intended changing their practices regarding newborn screening, given the information presented to them during the session, 64 out of 75 (85%) reported that they would expand their present explanation to parents. Sixty-two out of 81 (77%) of the second round of post tests were returned. Of these, questions about explaining newborn screening to parents were relevant to 53. This second round of post-tests showed that 28 out of 53 (53%) had expanded their explanation to parents about newborn screening and a further 20 (38%) reported that they will do so when the opportunity arises. This second round of post-tests showed that knowledge of CF carriers as asymptomatic persisted with 58 out of 61 (95%) choosing the correct response to that question (one omitted the question). Knowledge about the false positive rate appeared to decrease with only 38 out of 61 (62%) answering the question correctly (one omitted the question). However, this apparent decrease in knowledge may be incorrect since some respondents answered the question incorrectly but later indicated by their written comments that they had in fact retained the information.
DISCUSSION The IRT/DNA approach to CF newborn screening increases the specificity of the screening strategy (Spence et al., 1993) and decreases the number of false positives (Gregg et al., 1993). Spence (1993) and co-workers report that the IRT/DNA screening strategy has the potential to reduce parental anxiety. However, other psychological stressors may emerge as a result of receiving information about CF carrier status; information that many new parents may find difficult to comprehend. The fact that it is a 2-stage screening process (blood collection and then if necessary a sweat test) may serve to increase this stress. One 30-year-old client of ours described the diagnosis of carrier status in her newborn daughter as the most
Newborn Screening for Cystic Fibrosis
197
stressful event in her life, even more stressful than when her father died when she was 12. She reported: "I felt like an emotional w r e c k . . , disbelief, despair, uncertainty and h o p e . . . I suppose I still have trouble truly believing that she hasn't got CF". Our plan to ease parental anxiety by educating the maternity staff is in keeping with the suggestion by Tymstra (1986) who reported that the suspicion of thyroid deficiency was a great strain on parents of newborn babies tested for hypothyroidism. Both Tymstra (1986) and Marteau (1989) suggested that it may be possible to diminish adverse effects if the risk of a false positive result is fully explained at the outset. Testing for any reduced anxiety levels that may have occurred as a result of our educational program was beyond the scope of the present study. These results do suggest that the maternity staff have been adequately educated by a short, structured lesson that allowed time for discussion, that this method was far superior to pamphlet distribution, and that this new knowledge is being put into practice. Many of the rural hospitals that we surveyed were small and isolated, spread over an area of almost 100,000 km 2. We consider our peripatetic methods to be the key to providing education to such rural communities. Others have noted the disappointing results from pamphlets dealing with genetic information. In Finland, where aspartylglucosaminuria (AGU) is relatively common, only 34 out of 77 (44%) of AGU families were shown to have had read a mailed pamphlet that described the main data available on A G U (Keltikangas-Jarvinen et aL, 1983). The pamphlet distribution preceded by verbal information given by a physician led to relatively poor knowledge of AGU. Positive educational outcomes following didactic lessons have also been noted. For example, Brennan and co-workers (1992) showed that significant changes in knowledge about the genetics of CF can be achieved by a didactic educational program. Caution should be taken in generalizing these findings. We examined a unique situation. Presumably, the educational outcomes from the pamphlet in question are much better when the pamphlet is mailed with a report indicating that the baby is a CF carrier, given the relevance of the information at that time. Other pamphlets will have different target populations, different presentations and different messages. These findings do raise questions about the best methods of educating our nongenetic colleagues and our present and future clients about new genetic tests. The evaluation of other pamphlets purporting to provide genetic information would be recommended. It has been postulated that "As the Human Genome Project continues, tens if not hundreds of new genetic screening tests will compete for
198
Rae and Partington
introduction into routine clinical practice" (Elias et al., 1994). The educational implications require serious attention. REFERENCES Brennan M, Fine B, Pergament E, Minoque J (1992) Knowledge of and attitudes toward cystic fibrosis (CF) and carrier testing in a population at reproductive risk (abstract). J Genet Counsel 1(4):313-314. Elias S, Annas GJ (1994) Generic consent for genetic screening. N Engl J Med 330(22):16111613. Keltikangas-Jarv'inen L, Autio S (1983) Psychological obstacles to genetic education. Scand J Soc Med 11:7-10. Marteau T (1989) Psychological costs of screening. Br Med J 299:527. McCabe ERB (1991) Genetic screening for the next decade: Application of present and new technologies. Yale J Biol Med 64:9-14. Spence WC, Paulos-Thomas J, Orenstein DM, Naylor EW (I993) Neonatal screening for cystic fibrosis: Addition of molecular diagnostics to increase specificity. Biochem Med Metabol Biol 49:200-211. Tymstra T (1986) False positive results in screening tests: Experiences of parents of children screened for congenital hypothyroidism. Fam Pract 3(2):92-96. Wilcken B, Chalmers G (1985) Reduced morbidity in patients with cystic fibrosis detected by neonatal screening. Lancet 2:1319-1321. Wilcken B (1993) Newborn screening for cystic fibrosis: Its evolution and a review of the current situation. Screening 2:43-62.
