Journal of Genetic Counseling, Vol. 2, No. 2, 1993
A Survey of Reimbursement for Cystic Fibrosis Carrier Testing Barbara A. Bernhardt 1,2
To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually. KEY WORDS: cystic fibrosis; genetic services; genetic screening; carrier testing; reimbursement.
INTRODUCTION Recent technological advances have made it possible to offer cystic fibrosis (CF) carrier screening to large segments of the population. However, the American Society of Human Genetics stated in 1990 and reiterated in 1992 that routine CF carrier screening is not yet recommended for individuals or couples who do not have a family history of CF (American Society of Human Genetics, 1990, 1992), a stand also supported by the 1Genetics and Public Policy Studies, Johns Hopkins School of Medicine, Baltimore, Maryland. 2Correspondence should be directed to Barbara A. Bernhardt, Genetics and Public Policy Studies, Johns Hopkins Medical Institutions, 550 North Broadway, Suite 301, Baltimore, Maryland 21205. 69 1059-7700/93/0600-0069507.00/1 9 1993National Societyof Genetic
Counselors,
]no.
Bernhardt
70
National Institutes of Health (NIH Workshop on Population Screening for the Cystic Fibrosis Gene, 1990). Despite these recommendations, some groups believe that the current test should now be offered to individuals without a positive family history as a part of general obstetric or prenatal diagnostic services (Brock, 1990; Schulman et al., 1990). In considering guidelines for CF carrier screening, the NIH Workshop urged that " . . . when p o p u l a t i o n - b a s e d screening b e c o m e s wides p r e a d . . , there should be equal access to testing." Ensuring equal access to testing will require government subsidy of testing or adequate insurance reimbursement for the test (Bernhardt, 1991). Because subsidized programs for voluntary genetic carrier screening are unlikely to be established, consumers will rely on their medical insurance for coverage of CF carrier screening. Recent surveys by the Office of Technology Assessment have shown that D N A analysis is covered by 57% of States' Medicaid programs, with an average reimbursement of $33.39, and that no commercial insurers will cover CF carrier testing for screening purposes only (U.S. Congress, Office of Technology Assessment, 1992a). This survey was undertaken to assess the current reimbursement status of CF DNA carrier testing. Clients, rather than insurers, were surveyed in order to obtain data on the actual reimbursement experience of individuals tested, instead of data on how insurers report they would or would not cover the cost of testing. To obtain a sample of individuals who were tested for a variety of indications, clients were surveyed through genetic counselors throughout the Mid-Atlantic region. Some participating genetics centers had set up policies regarding CF carrier screening, such as offering screening to women being seen for consideration of prenatal diagnosis for another indication, or to offer screening to consanguineous couples referred for genetic counseling. No center was offering routine preconceptual screening to individuals without a family history of CF.
METHODS
A two page client self-administered questionnaire was developed to gather data on date of testing, number of family members tested, pregnancy status at the time of testing, indications for testing, type of insurance, cost of testing, insurance coverage of the test, and reasons for possible denial of coverage. To keep the questionnaire as brief as possible, no demographic data were collected. One hundred and two genetic counselors from 35 genetics centers in the Mid-Atlantic region were sent a letter explaining the study, a supply of the questionnaire, a sample of a cover letter to accompany the ques-
Reimbursement for Cystic Fibrosis Carrier Testing
71
tionnaire, and a supply of return envelopes. They were asked to mail the questionnaire, along with a modification of the cover letter printed on their own letterhead, to their clients (representing a single individual tested, a couple, or a family) who had CF testing performed in 1990 or 1991 and who were billed, or whose insurance was billed, for the test. Clients with Medicaid coverage were not surveyed, but counselors were asked if they had knowledge of coverage for cystic fibrosis testing by their state's Medicaid program. To determine survey response rate, counselors were asked to report the number of questionnaires mailed out. Clients answered the questionnaire anonymously, but were asked to supply the name of the center where they were seen for genetic counseling. Counselors were informed that they would receive a summary of the reimbursement experience of their clients at the conclusion of the study.
RESULTS Counselors from 18 centers mailed questionnaires to 216 clients. The number of questionnaires sent from any center ranged from 1 to 60. One hundred nine questionnaires were completed and returned for a response rate of 50%. Response rates by center varied from 0% to 100%. No attempts were made to follow up those who did not respond to the initial mailing. Four of the returned questionnaires involved testing performed after the study period and were excluded from further analysis. The results are based on the analysis of 105 completed questionnaires. Seventy-four percent of respondents had CF testing done during pregnancy and 54% of the total group had a positive family history. Sixty-nine of the respondents indicated the exact charge for each CF DNA test. The reported mean charge per test was $189 with a range from $110 to $272. Fifty-six percent of respondents had carrier testing only, 15% had both carrier and fetal testing, and 29% had fetal testing only. This latter group were all tested through one center where fetal CF screening is offered to Caucasian patients presenting for prenatal diagnosis for any indication. The percentage of respondents reporting that the cost of testing was covered in full, in part, or not at all is shown in Fig. 1. For those reporting that the test was covered in part by their insurance company, most indicated that they were responsible for only a small portion of the total charge (usually 20%) that was not routinely covered by insurance. Of the 32 respondents reporting that the testing was not covered, the reasons cited for non-coverage were: "DNA testing is not a service covered by my insurance policy" (59%), "DNA testing is considered experimental" (3%), "DNA testing was considered not medically indicated" (28%), and "deductible was
72
Bernhardt
In Part 31%
Unsure 6%
Not Covered 31% Fig. 1. Insurance coverage of test.
not met" (9%). There were no significant differences in coverage between tests performed in 1990 and those done in 1991. Coverage of the test by type of insurance is shown in Table I. The six respondents who were unsure of coverage of the test were excluded from this analysis and those whose tests were covered in part or in full were combined into one category. Testing was covered greater than 50% of the time by all types of insurance. By chi-square testing, there were no significant differences in coverage by type of insurance. Twenty-four percent of respondents reported needing to supply information to their insurance company before a final decision about coverage was made. The information requested by the insurance company related to indication for testing, confirmation of family history status, or further description of the test performed. Of this group, 76% eventually had the cost of their testing covered in part or in full by their insurance company. Data on coverage of the test by family history and pregnancy status are shown in Table II. The six respondents who were unsure of coverage of the test were excluded from this analysis and those whose tests were covered in part or in full were combined into one category. By chi-square testing, there was a significant association between pregnancy status/family history and insurance coverage of the test. The test was covered almost
Reimbursement for Cystic Fibrosis Carrier Testing
73
Table I. Coverage of Test by Type of Insurance a Coverage of test Type of insurance
N
In full/in part (%)
Not covered (%)
Blue Cross/Blue Shield HMO Other commercial Employer CHAMPUS Total
27 22 39 7 3~ 98
70 59 69 71 67
30 41 31 29 33
az24df
=
.889; p = .926.
Table II. Coverage of Test by Family History (FH) and Pregnancy Statusa Coverage of test Pregnancy/FH status Pregnant, positive FH Pregnant, negative FH Not pregnant, positive FH Not pregnant, negative FH Total a
N
In full/in part (%)
Not covered (%)
28 46 23 1 98
93 59 52 0
7 41 47 100
X2 Mf = 16.59;p < .001.
uniformly for pregnant respondents who had a positive family history. Fiftynine percent of pregnant respondents without a family history of cystic fibrosis had their test covered in part or in full while a somewhat smaller percentage (52%) of those not pregnant, but having a positive family history, had the test covered. None of the 28 counselors responding to the survey indicated that they had any knowledge of Medicaid coverage for CF carrier testing.
DISCUSSION
Pilot projects are currently underway to address some of the research questions, such as test sensitivity and effectiveness of educational materials, relating to population-based cystic fibrosis carrier screening. These projects will also identify the most appropriate target population for screening, as well as the most appropriate clinical settings for screening. Both the NIH statement on CF carrier screening and a recent survey of genetic counselors (U.S. Congress, Office of Technology Assessment, 1992b) have emphasized the importance of preconceptional screening so as to maximize the number of reproductive options open to at-risk couples.
74
Bernhardt
However, these data on test coverage for non-pregnant respondents indicate that the test was covered only 52% of the time, even though all but one of these respondents reported a positive family history of cystic fibrosis. More data on test coverage when performed on non-pregnant individuals with a negative family history would resolve the issue of anticipated access to preconceptual testing. However, given that a recent OTA survey of insurers indicated that no commercial insurance company would reimburse for CF carrier test for screening purposes only (U.S. Congress, Office of Technology Assessment, 1992c), it is likely that actual survey data would show reimbursement for preconceptual testing to be poor. Because many people are traditionally referred for genetic services through their obstetrical providers, it is more likely that screening programs will be aimed at pregnant women and their partners (U.S. Congress, Office of Technology Assessment, 1992a). The cost of the test and the extent to which insurance companies cover the cost of screening will impact greatly on test utilization. At present, the majority of insurers report that carrier tests for cystic fibrosis are covered if "medically indicated" (U.S. Congress, Office of Technology Assessment, 1992c). The definition of medical indications for testing will therefore influence how widespread testing becomes. If, based on recommendations of expert panels and professional societies, it is deemed medically indicated to offer CF carrier screening to pregnant women, insurers may gradually cover the cost of testing. Insurers, in fact, appear to be inclined toward covering the cost of CF screening during pregnancy as evidenced by the fact that nearly 60% of pregnant women with a negative family history responding to this survey indicated that testing was covered by their insurer. Nearly 1/4 of respondents to this survey needed to supply their insurer with additional information before a determination about coverage could be made. This may indicate that guidelines for test coverage are not yet strictly spelled out, probably due to insurers' lack of experience with claims submitted for coverage of CF DNA testing. Another obstacle to adequate insurance reimbursement for CF carrier testing may be the lack of a descriptive procedure (CPT) code for CF D N A testing which is recognized by third party payers. Lack of such a code may result in non-coverage of testing, or in reimbursement at a rate much lower than the amount charged. New CPT codes for molecular genetics procedures are being developed and will be available for use soon. Although using these codes for billing might improve reimbursement, insurers will still need to determine if the procedures are to be covered and under which circumstances, and, if covered, the payment schedule. Because of small sample size and low response rate, the results of this preliminary study need to be interpreted cautiously. A number of factors may have contributed to small sample size. First, genetic counselors
Reimbursement for Cystic Fibrosis Carrier Testing
75
were asked to identify clients who had CF carrier testing performed and to mail out questionnaires. By anecdotal reports, it appears that such retrospective identification of survey subjects was problematic and that time was often unavailable to mail out questionnaires and the cover letter. Therefore, some clients who were tested did not receive questionnaires. In addition, only 50% of subjects receiving the questionnaire completed it. Completion of the questionnaire involved retrieving some cost and insurance reimbursement information, which might be partially responsible for the low response rate. If such a reimbursement study were carried out in the future, prospective identification by genetic counselors of clients who could complete a survey soon after testing might increase both sample size and response rate. It is also possible that some respondents were tested only because they knew the test would be covered by their insurance, thereby increasing the percentage of individuals indicating coverage of the test. Many people offered testing may have declined it because their insurance company would not cover it. Despite these limitations, because the responses to this survey are derived from clients tested through many genetics centers and for a variety of indications, it is felt that they are likely to reflect the actual current status of reimbursement for cystic fibrosis carrier testing.
CONCLUSIONS AND RECOMMENDATIONS The results of this study indicate that CF carrier testing is often covered by insurance, especially when performed during a pregnancy. There is not, however, uniform coverage of the test, not even when performed because a positive family history, which is generally recognized as a legitimate medical indication for doing the test. Genetic counselors should make clients aware that CF carrier testing might not be covered by insurance, especially if performed preconceptually. Counselors should urge clients to appeal denials of coverage, particularly when testing is medically indicated. More data are needed on reimbursement for CF DNA testing, especially the experience of non-pregnant individuals. As testing becomes more widespread for consumers without a positive family history, insurers wilt need to be educated about appropriate medical indications for testing and insurance coverage of testing will need to be carefully and continuously monitored.
76
Bernhardt
ACKNOWLEDGMENTS T h e a u t h o r t h a n k s E l l e n T a m b o r for assisting with d a t a analysis a n d L i n d s a y E i e r m a n for h e r v a l u a b l e suggestions. T h i s p r o j e c t was s u p p o r t e d in p a r t b y G r a n t N o . M C J - 4 2 1 0 0 8 - 0 1 f r o m t h e M a t e r n a l a n d C h i l d H e a l t h P r o g r a m , H u m a n R e s o u r c e s a n d Services A d m i n i s t r a t i o n , D e p a r t m e n t o f H e a l t h a n d H u m a n Services.
REFERENCES
American Society of Human Genetics (1990) The American Society of Human Genetics statement on cystic fibrosis screening. A m J Hum Genet 46:393. American Society of Human Genetics (1992) The American Society of Human Genetics statement on cystic fibrosis screening. A m J Hum Genet 51:1443-1444. Bernhardt BA (1991) Population screening for the cystic fibrosis gene. New Eng J Med 324:61-62. Brock D (1990) Population screening for cystic fibrosis. A m J Hum Genet 47:164-165. National Institutes of Health, Workshop on Population Screening for the Cystic Fibrosis Gene (1990) Statement from the National Institutes of Health Workshop on population screening for the cystic fibrosis gene. New Eng J Med 323:70-71. Schulman JD, Maddalena A, Black SH, Bick DP (1990) Screening for cystic fibrosis carriers. A m J Hum Genet 47:740. U.S. Congress, Office of Technology Assessment (1992a) Cystic Fibrosis and DNA Tests: Implications of Carrier Screening. Washington, D.C.: U.S. Government Printing Office. U.S. Congress, Office of Technology Assessment (1992b) Genetic Counseling and Cystic Fibrosis Carrier Screening: Results of a Survey--Background Paper. Washington, D.C.: U.S. Government Printing Office. U.S. Congress, Office of Technology Assessment (1992c) Genetic Tests and Health Insurance: Results o f a Survey--Background Paper. Washington, D.C.: U.S. Government Printing Office.
A Survey of Reimbursement for Cystic Fibrosis Carrier Testing Barbara A. Bernhardt 1,2
To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually. KEY WORDS: cystic fibrosis; genetic services; genetic screening; carrier testing; reimbursement.
INTRODUCTION Recent technological advances have made it possible to offer cystic fibrosis (CF) carrier screening to large segments of the population. However, the American Society of Human Genetics stated in 1990 and reiterated in 1992 that routine CF carrier screening is not yet recommended for individuals or couples who do not have a family history of CF (American Society of Human Genetics, 1990, 1992), a stand also supported by the 1Genetics and Public Policy Studies, Johns Hopkins School of Medicine, Baltimore, Maryland. 2Correspondence should be directed to Barbara A. Bernhardt, Genetics and Public Policy Studies, Johns Hopkins Medical Institutions, 550 North Broadway, Suite 301, Baltimore, Maryland 21205. 69 1059-7700/93/0600-0069507.00/1 9 1993National Societyof Genetic
Counselors,
]no.
Bernhardt
70
National Institutes of Health (NIH Workshop on Population Screening for the Cystic Fibrosis Gene, 1990). Despite these recommendations, some groups believe that the current test should now be offered to individuals without a positive family history as a part of general obstetric or prenatal diagnostic services (Brock, 1990; Schulman et al., 1990). In considering guidelines for CF carrier screening, the NIH Workshop urged that " . . . when p o p u l a t i o n - b a s e d screening b e c o m e s wides p r e a d . . , there should be equal access to testing." Ensuring equal access to testing will require government subsidy of testing or adequate insurance reimbursement for the test (Bernhardt, 1991). Because subsidized programs for voluntary genetic carrier screening are unlikely to be established, consumers will rely on their medical insurance for coverage of CF carrier screening. Recent surveys by the Office of Technology Assessment have shown that D N A analysis is covered by 57% of States' Medicaid programs, with an average reimbursement of $33.39, and that no commercial insurers will cover CF carrier testing for screening purposes only (U.S. Congress, Office of Technology Assessment, 1992a). This survey was undertaken to assess the current reimbursement status of CF DNA carrier testing. Clients, rather than insurers, were surveyed in order to obtain data on the actual reimbursement experience of individuals tested, instead of data on how insurers report they would or would not cover the cost of testing. To obtain a sample of individuals who were tested for a variety of indications, clients were surveyed through genetic counselors throughout the Mid-Atlantic region. Some participating genetics centers had set up policies regarding CF carrier screening, such as offering screening to women being seen for consideration of prenatal diagnosis for another indication, or to offer screening to consanguineous couples referred for genetic counseling. No center was offering routine preconceptual screening to individuals without a family history of CF.
METHODS
A two page client self-administered questionnaire was developed to gather data on date of testing, number of family members tested, pregnancy status at the time of testing, indications for testing, type of insurance, cost of testing, insurance coverage of the test, and reasons for possible denial of coverage. To keep the questionnaire as brief as possible, no demographic data were collected. One hundred and two genetic counselors from 35 genetics centers in the Mid-Atlantic region were sent a letter explaining the study, a supply of the questionnaire, a sample of a cover letter to accompany the ques-
Reimbursement for Cystic Fibrosis Carrier Testing
71
tionnaire, and a supply of return envelopes. They were asked to mail the questionnaire, along with a modification of the cover letter printed on their own letterhead, to their clients (representing a single individual tested, a couple, or a family) who had CF testing performed in 1990 or 1991 and who were billed, or whose insurance was billed, for the test. Clients with Medicaid coverage were not surveyed, but counselors were asked if they had knowledge of coverage for cystic fibrosis testing by their state's Medicaid program. To determine survey response rate, counselors were asked to report the number of questionnaires mailed out. Clients answered the questionnaire anonymously, but were asked to supply the name of the center where they were seen for genetic counseling. Counselors were informed that they would receive a summary of the reimbursement experience of their clients at the conclusion of the study.
RESULTS Counselors from 18 centers mailed questionnaires to 216 clients. The number of questionnaires sent from any center ranged from 1 to 60. One hundred nine questionnaires were completed and returned for a response rate of 50%. Response rates by center varied from 0% to 100%. No attempts were made to follow up those who did not respond to the initial mailing. Four of the returned questionnaires involved testing performed after the study period and were excluded from further analysis. The results are based on the analysis of 105 completed questionnaires. Seventy-four percent of respondents had CF testing done during pregnancy and 54% of the total group had a positive family history. Sixty-nine of the respondents indicated the exact charge for each CF DNA test. The reported mean charge per test was $189 with a range from $110 to $272. Fifty-six percent of respondents had carrier testing only, 15% had both carrier and fetal testing, and 29% had fetal testing only. This latter group were all tested through one center where fetal CF screening is offered to Caucasian patients presenting for prenatal diagnosis for any indication. The percentage of respondents reporting that the cost of testing was covered in full, in part, or not at all is shown in Fig. 1. For those reporting that the test was covered in part by their insurance company, most indicated that they were responsible for only a small portion of the total charge (usually 20%) that was not routinely covered by insurance. Of the 32 respondents reporting that the testing was not covered, the reasons cited for non-coverage were: "DNA testing is not a service covered by my insurance policy" (59%), "DNA testing is considered experimental" (3%), "DNA testing was considered not medically indicated" (28%), and "deductible was
72
Bernhardt
In Part 31%
Unsure 6%
Not Covered 31% Fig. 1. Insurance coverage of test.
not met" (9%). There were no significant differences in coverage between tests performed in 1990 and those done in 1991. Coverage of the test by type of insurance is shown in Table I. The six respondents who were unsure of coverage of the test were excluded from this analysis and those whose tests were covered in part or in full were combined into one category. Testing was covered greater than 50% of the time by all types of insurance. By chi-square testing, there were no significant differences in coverage by type of insurance. Twenty-four percent of respondents reported needing to supply information to their insurance company before a final decision about coverage was made. The information requested by the insurance company related to indication for testing, confirmation of family history status, or further description of the test performed. Of this group, 76% eventually had the cost of their testing covered in part or in full by their insurance company. Data on coverage of the test by family history and pregnancy status are shown in Table II. The six respondents who were unsure of coverage of the test were excluded from this analysis and those whose tests were covered in part or in full were combined into one category. By chi-square testing, there was a significant association between pregnancy status/family history and insurance coverage of the test. The test was covered almost
Reimbursement for Cystic Fibrosis Carrier Testing
73
Table I. Coverage of Test by Type of Insurance a Coverage of test Type of insurance
N
In full/in part (%)
Not covered (%)
Blue Cross/Blue Shield HMO Other commercial Employer CHAMPUS Total
27 22 39 7 3~ 98
70 59 69 71 67
30 41 31 29 33
az24df
=
.889; p = .926.
Table II. Coverage of Test by Family History (FH) and Pregnancy Statusa Coverage of test Pregnancy/FH status Pregnant, positive FH Pregnant, negative FH Not pregnant, positive FH Not pregnant, negative FH Total a
N
In full/in part (%)
Not covered (%)
28 46 23 1 98
93 59 52 0
7 41 47 100
X2 Mf = 16.59;p < .001.
uniformly for pregnant respondents who had a positive family history. Fiftynine percent of pregnant respondents without a family history of cystic fibrosis had their test covered in part or in full while a somewhat smaller percentage (52%) of those not pregnant, but having a positive family history, had the test covered. None of the 28 counselors responding to the survey indicated that they had any knowledge of Medicaid coverage for CF carrier testing.
DISCUSSION
Pilot projects are currently underway to address some of the research questions, such as test sensitivity and effectiveness of educational materials, relating to population-based cystic fibrosis carrier screening. These projects will also identify the most appropriate target population for screening, as well as the most appropriate clinical settings for screening. Both the NIH statement on CF carrier screening and a recent survey of genetic counselors (U.S. Congress, Office of Technology Assessment, 1992b) have emphasized the importance of preconceptional screening so as to maximize the number of reproductive options open to at-risk couples.
74
Bernhardt
However, these data on test coverage for non-pregnant respondents indicate that the test was covered only 52% of the time, even though all but one of these respondents reported a positive family history of cystic fibrosis. More data on test coverage when performed on non-pregnant individuals with a negative family history would resolve the issue of anticipated access to preconceptual testing. However, given that a recent OTA survey of insurers indicated that no commercial insurance company would reimburse for CF carrier test for screening purposes only (U.S. Congress, Office of Technology Assessment, 1992c), it is likely that actual survey data would show reimbursement for preconceptual testing to be poor. Because many people are traditionally referred for genetic services through their obstetrical providers, it is more likely that screening programs will be aimed at pregnant women and their partners (U.S. Congress, Office of Technology Assessment, 1992a). The cost of the test and the extent to which insurance companies cover the cost of screening will impact greatly on test utilization. At present, the majority of insurers report that carrier tests for cystic fibrosis are covered if "medically indicated" (U.S. Congress, Office of Technology Assessment, 1992c). The definition of medical indications for testing will therefore influence how widespread testing becomes. If, based on recommendations of expert panels and professional societies, it is deemed medically indicated to offer CF carrier screening to pregnant women, insurers may gradually cover the cost of testing. Insurers, in fact, appear to be inclined toward covering the cost of CF screening during pregnancy as evidenced by the fact that nearly 60% of pregnant women with a negative family history responding to this survey indicated that testing was covered by their insurer. Nearly 1/4 of respondents to this survey needed to supply their insurer with additional information before a determination about coverage could be made. This may indicate that guidelines for test coverage are not yet strictly spelled out, probably due to insurers' lack of experience with claims submitted for coverage of CF DNA testing. Another obstacle to adequate insurance reimbursement for CF carrier testing may be the lack of a descriptive procedure (CPT) code for CF D N A testing which is recognized by third party payers. Lack of such a code may result in non-coverage of testing, or in reimbursement at a rate much lower than the amount charged. New CPT codes for molecular genetics procedures are being developed and will be available for use soon. Although using these codes for billing might improve reimbursement, insurers will still need to determine if the procedures are to be covered and under which circumstances, and, if covered, the payment schedule. Because of small sample size and low response rate, the results of this preliminary study need to be interpreted cautiously. A number of factors may have contributed to small sample size. First, genetic counselors
Reimbursement for Cystic Fibrosis Carrier Testing
75
were asked to identify clients who had CF carrier testing performed and to mail out questionnaires. By anecdotal reports, it appears that such retrospective identification of survey subjects was problematic and that time was often unavailable to mail out questionnaires and the cover letter. Therefore, some clients who were tested did not receive questionnaires. In addition, only 50% of subjects receiving the questionnaire completed it. Completion of the questionnaire involved retrieving some cost and insurance reimbursement information, which might be partially responsible for the low response rate. If such a reimbursement study were carried out in the future, prospective identification by genetic counselors of clients who could complete a survey soon after testing might increase both sample size and response rate. It is also possible that some respondents were tested only because they knew the test would be covered by their insurance, thereby increasing the percentage of individuals indicating coverage of the test. Many people offered testing may have declined it because their insurance company would not cover it. Despite these limitations, because the responses to this survey are derived from clients tested through many genetics centers and for a variety of indications, it is felt that they are likely to reflect the actual current status of reimbursement for cystic fibrosis carrier testing.
CONCLUSIONS AND RECOMMENDATIONS The results of this study indicate that CF carrier testing is often covered by insurance, especially when performed during a pregnancy. There is not, however, uniform coverage of the test, not even when performed because a positive family history, which is generally recognized as a legitimate medical indication for doing the test. Genetic counselors should make clients aware that CF carrier testing might not be covered by insurance, especially if performed preconceptually. Counselors should urge clients to appeal denials of coverage, particularly when testing is medically indicated. More data are needed on reimbursement for CF DNA testing, especially the experience of non-pregnant individuals. As testing becomes more widespread for consumers without a positive family history, insurers wilt need to be educated about appropriate medical indications for testing and insurance coverage of testing will need to be carefully and continuously monitored.
76
Bernhardt
ACKNOWLEDGMENTS T h e a u t h o r t h a n k s E l l e n T a m b o r for assisting with d a t a analysis a n d L i n d s a y E i e r m a n for h e r v a l u a b l e suggestions. T h i s p r o j e c t was s u p p o r t e d in p a r t b y G r a n t N o . M C J - 4 2 1 0 0 8 - 0 1 f r o m t h e M a t e r n a l a n d C h i l d H e a l t h P r o g r a m , H u m a n R e s o u r c e s a n d Services A d m i n i s t r a t i o n , D e p a r t m e n t o f H e a l t h a n d H u m a n Services.
REFERENCES
American Society of Human Genetics (1990) The American Society of Human Genetics statement on cystic fibrosis screening. A m J Hum Genet 46:393. American Society of Human Genetics (1992) The American Society of Human Genetics statement on cystic fibrosis screening. A m J Hum Genet 51:1443-1444. Bernhardt BA (1991) Population screening for the cystic fibrosis gene. New Eng J Med 324:61-62. Brock D (1990) Population screening for cystic fibrosis. A m J Hum Genet 47:164-165. National Institutes of Health, Workshop on Population Screening for the Cystic Fibrosis Gene (1990) Statement from the National Institutes of Health Workshop on population screening for the cystic fibrosis gene. New Eng J Med 323:70-71. Schulman JD, Maddalena A, Black SH, Bick DP (1990) Screening for cystic fibrosis carriers. A m J Hum Genet 47:740. U.S. Congress, Office of Technology Assessment (1992a) Cystic Fibrosis and DNA Tests: Implications of Carrier Screening. Washington, D.C.: U.S. Government Printing Office. U.S. Congress, Office of Technology Assessment (1992b) Genetic Counseling and Cystic Fibrosis Carrier Screening: Results of a Survey--Background Paper. Washington, D.C.: U.S. Government Printing Office. U.S. Congress, Office of Technology Assessment (1992c) Genetic Tests and Health Insurance: Results o f a Survey--Background Paper. Washington, D.C.: U.S. Government Printing Office.
