Am. J. Hum. Genet. 47:896-898, 1990
Invited Editorial: State-sponsored Maternal Serum Alpha-Fetoprotein Activities: Current Issues in Genetics and Public Health Jessica G. Davis Division of Human Genetics, Department of Pediatrics, The New York Hospital - Cornell University Medical College, New York City
Public health is the foundation upon which rest the happiness of the people and the power of the state. -Benjamin Disraeli
Cunningham and Kizer's (1990) timely article on the current status of maternal serum alpha-fetoprotein (MSAFP) screening activities conducted by state health agencies provides fresh insights into the expanded role of medical genetics in public health. It pinpoints some of the problems encountered in the incorporation of genetic services into public health planning. It also highlights a parallel development, namely, the role of public health in monitoring the performance and practices of medical genetic laboratories. Medical genetic public health programs are designed primarily to meet the genetic needs of large segments of the general population rather than to resolve the unique genetic problems of specific individuals, couples, or families referred for or seeking genetic services (Harper 1990). The development of medical genetic public health programs is closely linked to continued advances in the science and technology of human genetics. Initiation and implementation of these programs is often sparked by heightened public and professional awareness of the field's achievements. The Cunningham and Kizer paper underscores how the goals, objectives, and infrastructure of each genetic public health program vary. Financial support, attempts at data collection, and tracking of cases also differ from program to program and from state to state. Population-based screening is not a new concept. Mass screening of newborns for phenylketonuria beReceived September 26, 1990. Address for correspondence and reprints: Jessica G. Davis, Division of Human Genetics, Department of Pediatrics. Room HT-150, The New York Hospital-Cornell University Medical College, 505 East 70th Street, New York, NY 10021. i 1990 by The American Society of Human Genetics. All rights reserved.
0002-9297/90/4706-0003$02.00
896
gan in the early 1960s. It took 2 decades before newborn screening became a truly national effort. Today newborns are screened for phenylketonuria and hypothyroidism in every state and in the District of Columbia. Forty-nine states and the District of Columbia also screen newborns for sickle cell anemia and related hemoglobinopathies. Although other disorders, such as galactosemia, cystic fibrosis, congenital adrenal hyperplasia, and maple syrup disease, are amenable to screening using the same newborn blood specimen, not all states or regions screen for every inborn error of metabolism, other endocrinopathies, or nonmetabolic genetic diseases. According to Pass and Willey (1990), "programs across the nation select those conditions best suited for their populations based on pilot studies, availability of funds, and the abilities and limitations of screening technology. Guidelines or regulations for monitoring newborn screening laboratories vary from state to state." When one compares the newborn-screening-program experience with the results of Cunningham and Kizer's (1990) national survey of MSAFP screening activities, one is impressed with the degree of inertia encountered. The length of time needed and the amount of energy expended in order to learn the perceptions of health policymakers was extraordinary. Furthermore, there appeared to be no carryover from their successful newbornscreening experience. This survey clearly underscores the lack of interest and the apparent lack of intellectual excitement or curiosity about genetic subjects. Many regional differences continue to hound the efforts of the medical genetics community. Lack of legislative authority and flexibility with respect to laboratory regulations and programmatic change need to be addressed. These factors hobble the introduction of innovative genetic public health measures. Although proof exists that MSAFP and newborn screening are cost-effective programs (Main and Mennuti 1986; Tosi et al. 1987), funding issues will con-
Invited Editorial tinue to play a significant role in the development and implementation of any new genetic public health efforts (Greenstein et al. 1987). It is unlikely that new sources of funding will emerge in today's climate of fiscal uncertainty. California's successful demonstration of a feesupported statewide approach (Cunningham and Kizer 1990) should be analyzed by states or regions seeking to establish MSAFP screening. As suggested, some states may be able to adopt similar measures or make appropriate modifications of existing regulations so that programs can meet their expenses. If this is not feasible, all possible sources of funding should be identified and reviewed to see whether there are untapped resources. In addition, all genetic service providers can benefit from the careful analysis of different models of service delivery. The effective Maryland program might prove disastrous in New Mexico. Exchange of ideas on this subject should be encouraged. Another interesting feature identified by this poll was the lack of genetic expertise at the state level. Again, this is highly variable. Similar observations were made in a report by the Royal College of Physicians (1989). In Britain, community (public health) physicians lack adequate training in genetics (Harper 1990). Relatively few clinical geneticists are involved either in preventive genetic services based on population screening or in the delivery of genetic services to the community (Modell 1990). In discussing the need for population-based cystic fibrosis screening, Modell (1990) calls for increased involvement of clinical geneticists in the delivery of community (public health) genetic services. Harper (1990) muses on the possibility of a new specialist with training in both genetics and community medicine. Cunningham and Kizer (1990) tackle the lack of genetic knowledge at the public health level by urging members of the medical genetics community to become involved in educating public health officials about pertinent issues related to medical genetics. Efforts should be made to change the attitudes and staffing patterns of key state agencies. Knowledgeable staff or consultants can make a difference. Dialogue between appropriate health care professionals can and will make a difference. Educational efforts should be directed at those legislators concerned with the delivery and funding of health care services in an effort to increase public awareness of new developments in our field as well as to gain their support. In addition to data about MSAFP screening programs and delivery ofgenetics services, Cunningham and Kizer (1990) discuss the negligible impact that the two Amer-
897
ican Society of Human Genetics (ASHG) policy statements (American Society of Human Genetics 1987; Garver 1989) concerning MSAFP has had on the members of other outside organizations. Written by acknowledged experts in their field, these statements underwent peer review prior to their approval by ASHG's board of directors and general membership. They were published in the Journal and mailed to a variety of outside organizations, including each state's department of health. Despite these efforts, a significant number of state health department representatives had no knowledge of ASHG's policy statements. The lack of recognition for genetic health care professionals stems in part from the fact that we are still "the new kids on the block." The authors stress the need for genetic health professionals to become active participants. It is not enough to write or even publish guidelines. The result of the Cunningham and Kizer survey points out the need for representatives of the human and medical genetics professions to discuss policy statements in person with the appropriate public health and general medical providers. Such presentations become more meaningful if data and information about all aspects of the program under consideration are included. Once accepted, policy statements impact on standards of care at all levels of genetic services delivery. The endorsement of properly designed comprehensive screening programs will ensure improved public education, high-quality laboratory studies, and public health tracking and follow-up of presumptive positive results. The medical genetics community's challenge for the 1990s will be to continue its extraordinary efforts in biomedical research, education, training, and service to specifically designated beneficiaries or targeted groups. At the same time, there is a clear need for genetic health care professionals to work closely with public-health providers in order to develop and implement programs to meet our nation's genetic needs. References American Society of Human Genetics (1987) American Society of Human Genetics policy statement for maternal serum alpha-fetoprotein screening programs and quality control for laboratories performing maternal serum and amniotic fluid alpha-fetoprotein assays. Am J Hum Genet
40:75-82 Cunningham GC, Kizer KW (1990) Maternal serum alphafetoprotein screening activities of state health agencies: a survey. Am J Hum Genet 47:899-903 Garver KL (1989) Update on MSAFP policy statement from
898 The American Society of Human Genetics. Am J Hum Genet 45:332-334 Greenstein RM, Gardiner GB, Young DC (eds) (1987) The challenge to provide genetics services: reimbursement for medical genetics services. Conference proceedings. University of Connecticut School of Medicine and U.S. Department of Health and Human Services, Maternal and Child Health Harper PS (1990) Editorial on genetics services in the community. J Med Genet 27:473-474 Main DM, Mennuti TM (1986) Neural tube defects: issues in prenatal diagnosis and counseling. Am J Obstet Gynecol 67:1
Davis Modell B (1990) Cystic fibrosis screening and community genetics. J Med Genet 27:475-479 Pass K, Willey AM (1990) Newborn screening in New York State: a guide for health professionals. Newborn Screening Programs Wadsworth Center for Laboratories and Research, New York State Department of Health 1:1 Royal College of Physicians (1989) Summary report: prenatal diagnosis and genetic screening. J R Coll Physicians Lond 23:215-219 Tosi LL, Detsky AS, Roye DP, Mordern ML (1987) When does mass screening for open neural tube defects in lowrisk pregnancies result in cost savings? Can Med Assoc J 136:255
Invited Editorial: State-sponsored Maternal Serum Alpha-Fetoprotein Activities: Current Issues in Genetics and Public Health Jessica G. Davis Division of Human Genetics, Department of Pediatrics, The New York Hospital - Cornell University Medical College, New York City
Public health is the foundation upon which rest the happiness of the people and the power of the state. -Benjamin Disraeli
Cunningham and Kizer's (1990) timely article on the current status of maternal serum alpha-fetoprotein (MSAFP) screening activities conducted by state health agencies provides fresh insights into the expanded role of medical genetics in public health. It pinpoints some of the problems encountered in the incorporation of genetic services into public health planning. It also highlights a parallel development, namely, the role of public health in monitoring the performance and practices of medical genetic laboratories. Medical genetic public health programs are designed primarily to meet the genetic needs of large segments of the general population rather than to resolve the unique genetic problems of specific individuals, couples, or families referred for or seeking genetic services (Harper 1990). The development of medical genetic public health programs is closely linked to continued advances in the science and technology of human genetics. Initiation and implementation of these programs is often sparked by heightened public and professional awareness of the field's achievements. The Cunningham and Kizer paper underscores how the goals, objectives, and infrastructure of each genetic public health program vary. Financial support, attempts at data collection, and tracking of cases also differ from program to program and from state to state. Population-based screening is not a new concept. Mass screening of newborns for phenylketonuria beReceived September 26, 1990. Address for correspondence and reprints: Jessica G. Davis, Division of Human Genetics, Department of Pediatrics. Room HT-150, The New York Hospital-Cornell University Medical College, 505 East 70th Street, New York, NY 10021. i 1990 by The American Society of Human Genetics. All rights reserved.
0002-9297/90/4706-0003$02.00
896
gan in the early 1960s. It took 2 decades before newborn screening became a truly national effort. Today newborns are screened for phenylketonuria and hypothyroidism in every state and in the District of Columbia. Forty-nine states and the District of Columbia also screen newborns for sickle cell anemia and related hemoglobinopathies. Although other disorders, such as galactosemia, cystic fibrosis, congenital adrenal hyperplasia, and maple syrup disease, are amenable to screening using the same newborn blood specimen, not all states or regions screen for every inborn error of metabolism, other endocrinopathies, or nonmetabolic genetic diseases. According to Pass and Willey (1990), "programs across the nation select those conditions best suited for their populations based on pilot studies, availability of funds, and the abilities and limitations of screening technology. Guidelines or regulations for monitoring newborn screening laboratories vary from state to state." When one compares the newborn-screening-program experience with the results of Cunningham and Kizer's (1990) national survey of MSAFP screening activities, one is impressed with the degree of inertia encountered. The length of time needed and the amount of energy expended in order to learn the perceptions of health policymakers was extraordinary. Furthermore, there appeared to be no carryover from their successful newbornscreening experience. This survey clearly underscores the lack of interest and the apparent lack of intellectual excitement or curiosity about genetic subjects. Many regional differences continue to hound the efforts of the medical genetics community. Lack of legislative authority and flexibility with respect to laboratory regulations and programmatic change need to be addressed. These factors hobble the introduction of innovative genetic public health measures. Although proof exists that MSAFP and newborn screening are cost-effective programs (Main and Mennuti 1986; Tosi et al. 1987), funding issues will con-
Invited Editorial tinue to play a significant role in the development and implementation of any new genetic public health efforts (Greenstein et al. 1987). It is unlikely that new sources of funding will emerge in today's climate of fiscal uncertainty. California's successful demonstration of a feesupported statewide approach (Cunningham and Kizer 1990) should be analyzed by states or regions seeking to establish MSAFP screening. As suggested, some states may be able to adopt similar measures or make appropriate modifications of existing regulations so that programs can meet their expenses. If this is not feasible, all possible sources of funding should be identified and reviewed to see whether there are untapped resources. In addition, all genetic service providers can benefit from the careful analysis of different models of service delivery. The effective Maryland program might prove disastrous in New Mexico. Exchange of ideas on this subject should be encouraged. Another interesting feature identified by this poll was the lack of genetic expertise at the state level. Again, this is highly variable. Similar observations were made in a report by the Royal College of Physicians (1989). In Britain, community (public health) physicians lack adequate training in genetics (Harper 1990). Relatively few clinical geneticists are involved either in preventive genetic services based on population screening or in the delivery of genetic services to the community (Modell 1990). In discussing the need for population-based cystic fibrosis screening, Modell (1990) calls for increased involvement of clinical geneticists in the delivery of community (public health) genetic services. Harper (1990) muses on the possibility of a new specialist with training in both genetics and community medicine. Cunningham and Kizer (1990) tackle the lack of genetic knowledge at the public health level by urging members of the medical genetics community to become involved in educating public health officials about pertinent issues related to medical genetics. Efforts should be made to change the attitudes and staffing patterns of key state agencies. Knowledgeable staff or consultants can make a difference. Dialogue between appropriate health care professionals can and will make a difference. Educational efforts should be directed at those legislators concerned with the delivery and funding of health care services in an effort to increase public awareness of new developments in our field as well as to gain their support. In addition to data about MSAFP screening programs and delivery ofgenetics services, Cunningham and Kizer (1990) discuss the negligible impact that the two Amer-
897
ican Society of Human Genetics (ASHG) policy statements (American Society of Human Genetics 1987; Garver 1989) concerning MSAFP has had on the members of other outside organizations. Written by acknowledged experts in their field, these statements underwent peer review prior to their approval by ASHG's board of directors and general membership. They were published in the Journal and mailed to a variety of outside organizations, including each state's department of health. Despite these efforts, a significant number of state health department representatives had no knowledge of ASHG's policy statements. The lack of recognition for genetic health care professionals stems in part from the fact that we are still "the new kids on the block." The authors stress the need for genetic health professionals to become active participants. It is not enough to write or even publish guidelines. The result of the Cunningham and Kizer survey points out the need for representatives of the human and medical genetics professions to discuss policy statements in person with the appropriate public health and general medical providers. Such presentations become more meaningful if data and information about all aspects of the program under consideration are included. Once accepted, policy statements impact on standards of care at all levels of genetic services delivery. The endorsement of properly designed comprehensive screening programs will ensure improved public education, high-quality laboratory studies, and public health tracking and follow-up of presumptive positive results. The medical genetics community's challenge for the 1990s will be to continue its extraordinary efforts in biomedical research, education, training, and service to specifically designated beneficiaries or targeted groups. At the same time, there is a clear need for genetic health care professionals to work closely with public-health providers in order to develop and implement programs to meet our nation's genetic needs. References American Society of Human Genetics (1987) American Society of Human Genetics policy statement for maternal serum alpha-fetoprotein screening programs and quality control for laboratories performing maternal serum and amniotic fluid alpha-fetoprotein assays. Am J Hum Genet
40:75-82 Cunningham GC, Kizer KW (1990) Maternal serum alphafetoprotein screening activities of state health agencies: a survey. Am J Hum Genet 47:899-903 Garver KL (1989) Update on MSAFP policy statement from
898 The American Society of Human Genetics. Am J Hum Genet 45:332-334 Greenstein RM, Gardiner GB, Young DC (eds) (1987) The challenge to provide genetics services: reimbursement for medical genetics services. Conference proceedings. University of Connecticut School of Medicine and U.S. Department of Health and Human Services, Maternal and Child Health Harper PS (1990) Editorial on genetics services in the community. J Med Genet 27:473-474 Main DM, Mennuti TM (1986) Neural tube defects: issues in prenatal diagnosis and counseling. Am J Obstet Gynecol 67:1
Davis Modell B (1990) Cystic fibrosis screening and community genetics. J Med Genet 27:475-479 Pass K, Willey AM (1990) Newborn screening in New York State: a guide for health professionals. Newborn Screening Programs Wadsworth Center for Laboratories and Research, New York State Department of Health 1:1 Royal College of Physicians (1989) Summary report: prenatal diagnosis and genetic screening. J R Coll Physicians Lond 23:215-219 Tosi LL, Detsky AS, Roye DP, Mordern ML (1987) When does mass screening for open neural tube defects in lowrisk pregnancies result in cost savings? Can Med Assoc J 136:255
