Medical genetics is a young specialty. Although its roots reach back over millennia, genetic services have been a part of clinical medicine for only the past few decades. In the past, clinical genetics professionals primarily addressed issues related to birth defects and "traditional" genetic disorders, (Note 1) conditions that while individually rare, collectively affect around 3-4% of the population. Although problems related to access, service delivery, and funding existed, most problems seemed manageable given the limited scope of services provided.

Today a new face of genetics is emerging. The rapid advances in genetics due to the Human Genome Project and other scientific endeavors create challenges far greater than those faced in the past. Genetics has effects across the lifespan; genetic principles cut through every medical subspecialty; advances in molecular diagnosis and treatment will challenge health care providers and the public, ethically and morally. "Genetics is everywhere." How can we respond to the challenge of providing high quality genetic services to the citizens of this State? This document is a first step in creating a plan of action for the continued development of genetic care in Wisconsin.

Why a Statewide Genetic Plan?

Genetic services have always had a public health focus. Prevention (both through education and long term anticipatory medical care) and health promotion (primarily for populations with special health care needs) have been central to clinical genetics activity. Furthermore, Wisconsin has been a leader in assuring access to quality genetic services. However, planning related to such services has been limited. Therefore, a Statewide Genetic Plan is visualized as a way to assess how current needs can better be addressed and how the new challenges of the future can best be faced.

Process and Intended Use

Supported by grant funds from the Maternal and Child Health Bureau, Health Resources and Services Administration, a workgroup of 34 individuals was formed (see Appendix I) in 2000 to develop a Genetic Services Plan for Wisconsin. Prior to convening the workgroup, the existing status of genetic activity in Wisconsin was compared with guidelines developed by the Council of Regional Networks for Genetic Services (see Appendix II). Through the workgroup and its subcommittees (Finance; The New Genetics; Documentation and Data; Care Delivery; Client-Centered Care; Education and Information; State Structure), central issues were identified and solutions sought. This document is the result of these deliberations.

The workgroup determined that this Plan should be "needs identification" focused rather than "solution" oriented. Recommendations are presented, which are intended to be starting points for the development of future solutions, rather than being a fixed set of guidelines for action. The workgroup views this Plan as being a work in progress that will serve as a template for future actions and that periodically will be modified over the coming years.

Intended Audiences

This document is directed toward everyone who has a stake in the future of medical genetic services in Wisconsin. Included in this group are genetic professionals; primary care providers and other health care professionals; state agency staff; legislators; educators; third party payers; family and health care advocates; and current and potential "consumers." (Note 2) In addition, a primary intent of this document is to serve as a guide for the Advisory Council on Genetic Services, which the workgroup visualizes as carrying on its mission in the future.

"Genetics is everywhere." Genetics can mean many things. In medicine, genetics can refer to changes in genes; it can refer to disorders that are passed on in families; it can refer to birth defects and their causes; and it can refer to complex conditions where genetic and non-genetic factors play a role in the development of a disorder, such as diabetes, heart disease and cancer. Medical genetics deals with all of these issues and their impact on individuals and families. Genetics can have an influence at any point in the life cycle:

Before pregnancy and during pregnancy:

• Neural tube defects, such as spina bifida and anencephaly, are birth defects that are caused by a combination of genetic and environmental factors. Adequate intake of the B vitamin folic acid has been shown to prevent up to 60-70% of all neural tube defects. Genetics professionals are involved in educating the public about the importance of taking folic acid before and during pregnancy.
• At least 20% of all recognized pregnancies end in miscarriage. Genetic factors (mainly chromosome abnormalities) cause at least half of all of miscarriages. Understanding the genetic cause of miscarriage can often help couples cope with their loss and provide important information on implications for future pregnancies.
• Exposures during pregnancy, such as to high levels of alcohol, can affect a baby's development and result in birth defects that could have been prevented. Teratogen Information Services, which are often affiliated with clinical genetic centers, provide the general public as well as health care professionals with information on pregnancy exposures and birth defects prevention.
• Prenatal screening, such as use of maternal serum triple screening, can identify pregnancies at risk for disorders such as neural tube defects and Down syndrome. Genetic counseling can educate patients about potential risks to their pregnancies and allow them to make informed decisions about prenatal diagnostic testing.
• Prenatal diagnostic tests, such as amniocentesis and ultrasound assessment, can provide families with information about the risk (or lack of risk) that their baby may be born with certain birth defects.

• At least 3% of all babies are born with physical birth defects, most of which are genetically determined. Physician geneticists are involved in determining if a birth defect is isolated or associated with other medical problems. This knowledge can be important for the care of the infant and may have medical implications for other family members.
• Newborn screening tests are a powerful tool for early identification and treatment of certain disorders. However, such screening and treatment methods are currently available for only a few of the causes of birth defects and genetic disorders.

• Learning disabilities and mental retardation affect at least 5-10% of the population. Most individuals who are mentally retarded have genetic causes for their disability. Identifying a cause is essential for accurate genetic counseling of other family members regarding potential risks for having a child with similar problems.
• Genetics also plays a role in the development of many common medical disorders of childhood, such as asthma and juvenile diabetes. Understanding the genetic causes of such common childhood disorders is helping to develop better prevention and treatment strategies.

• In the past, medical genetics focused on disorders of infants and children. More recently there has been an explosion of information about genetic involvement in common adult-onset conditions. Breast and ovarian cancer, colon cancer, heart disease, adult-onset diabetes, mental illness, hemochromatosis and a host of other disorders are now recognized as being caused, at least in part, by genetic factors.
• Notably, a major effect of the "new genetics" is recognition of the complex genetic factors that can predispose each of us to a specific set of adult-onset disorders. Individuals who are aware of their increased genetic risk for certain conditions can work with health care professionals to schedule appropriate intervention and surveillance strategies, which allows for early identification and possibly prevention of the disorder.

Indeed, "genetics is everywhere." The needs for genetic services will increase as the Human Genome Project matures and we are able to incorporate this new molecular information into medical care. As a community, how will we be able to respond to the ever-increasing impact of genetic knowledge?

COMPONENTS OF GENETIC CARE

Traditionally, the provision of genetic care has involved two primary approaches: the "medical model" and the "counseling model". The medical model focuses primarily on clinical diagnosis, medical prognosis, and ongoing health care needs. The counseling model focuses on providing information, choices and support in a "non-directive" context. Both approaches rely upon appropriate identification and assessment of the genetic issues involved.

The second approach, called genetic counseling, is less common in routine clinical practice and often misunderstood. Genetic counseling is a specialized communication process that deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. As members of a health care team, genetic counselors provide 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. Genetic counselors identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family. Genetic counselors also provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. Genetic counselors serve as educators and resource people for other health care professionals and for the general public. (Note 3)

Though the medical model and counseling model each have independent value, the needs of individuals and families affected by genetic conditions are best served when these two models are combined in the provision of comprehensive care (see diagram below).

LIFEline: The Importance of a Diagnosis

Other components of genetic service reach beyond patient- and family-based clinical care, including:

• Laboratory support
• Screening of populations at risk
• Teaching and training
• Public education.

Public education is particularly crucial in providing the public with the resources to address genetic issues relevant to their lives.

PROVIDERS OF GENETIC CARE

Genetic professionals provide health care services to families and offer other services, such as laboratory support.

• Clinical Geneticists are physicians with training in a primary specialty (e.g. pediatrics, obstetrics, internal medicine) and additional subspecialty training in the clinical aspects of genetic care. Medical geneticists receive board certification through the American Board of Medical Genetics.
• That board also certifies the training and expertise of Clinical Biochemical Geneticists (specialists in the diagnosis and treatment of inborn errors of metabolism), Clinical Molecular Geneticists (experts in the use of molecular tools in the diagnosis of genetic processes), Clinical Cytogeneticists (experts in the utilization and interpretation of chromosome analyses) and Ph.D. Geneticists.
• Genetic Counselors have masters-level degrees and are trained in all aspects of medical and clinical genetics as well as in counseling. Counselors are certified through the American Board of Genetic Counseling.

LIFEline: The Role of the Genetic Counselor

As yet there is no mechanism for certification of clinics and sites that provide genetic care. However, training sites for medical genetics specialties and genetic laboratories must be certified.

In addition to these care providers, various aspects of genetic services may be made available by other health care providers such as perinatal specialists involved with prenatal diagnostic services and nurses with advanced training in genetics. As the understanding of genetic predispositions to various disorders is better worked out, many different specialists will need to assume new roles as interpreters of genetic information for their patients.

Genetic support groups and peer group organizations can provide another kind of care--care extending beyond the clinical setting. Only if families and support groups are recognized as an integral part of the care provider network can genetic care be truly comprehensive and therapeutic gains maximized.

Guiding Principles in Genetic Service Provision

Any plan for genetic services should be consistent with fundamental principles of all public health activities. (Note 4) These include:

• Family Centered Care. Caring for the entire family has been central to genetic services since their inception. Genetics, after all, fundamentally deals with issues that may impact many current and future members of families. Furthermore, the founding principle of providing information in a non-directive context emphasizes empowerment, respect and autonomy.
• Community-Based Access. Outreach activities have been and remain a central part of genetic care in Wisconsin. Such outreach not only provides services near the communities in which families live, but also strives to assure equality of access to services and to function as a "safety net" for families who otherwise would be without this help. Additionally, geneticists often must assume a major role in the coordination of care of complex conditions. As the role of genetics in medical care expands, the challenges of providing equitable access to this care will also increase.
• Leadership and Collaboration. As reflected in the development of this document, the genetics "community" must include not only care providers but all others who have a stake in assuring that quality services are available to all people of Wisconsin--including families, community leaders, and governmental representatives.
• Utilization of Family Resiliency. Here, too, the tradition of fostering autonomy and empowerment places genetic care provision at the forefront of such a guiding principle.
• Culturally Competent Care. Genetic services in Wisconsin have customarily been provided in a setting that values diversity and respects individual beliefs and family traditions.

Why should genetic care be considered a crucial partner in medical care? What benefits result from such care? The following is an outline of the expected benefits of comprehensive genetic services:

• Family and Patient Education. Often family members do not fully understand a diagnosis and its implications until they meet with a genetics professional.
• Informed Decision-Making. Autonomous decision-making--about health care as well as reproductive decisions--can only be made when the implications of those decisions are fully understood. The non-directive manner of genetic care seeks to assure that the decisions families make will be fully informed and, ultimately, their own.
• Anticipatory Guidance. Specific diagnosis is the cornerstone of preventive care in genetic disorders. Once a diagnosis is established, whether by testing or clinical assessment, the affected individual or family can be educated regarding the prevention of future medical problems and the identification of risk in other family members. Presymptomatic genetic diagnosis and predictive testing for predisposition to disorders such as cancer and heart disease can provide an opportunity for anticipatory guidance and risk reduction; this not only will help the affected individual and family, but also can reduce overall health care costs.

LIFEline: Ongoing Genetic Care

WHY SHOULD GENETICS BE IN THE PUBLIC SECTOR?

In contrast to most other medical subspecialties, medical genetics has traditionally straddled the public and private domains of medicine. In part this was simply of necessity, since reimbursement for many genetic services is inadequate to assure their continuing existence without public funding. In addition, genetic programs are in many ways similar to other public health programs.

Following are some justifications for sustaining involvement of the public sector in medical genetics:

• Emphasis on prevention. Medical genetics emphasizes preventive aspects of care that are also central to public health initiatives. Preventive services in genetics can be divided into primary, secondary and tertiary levels.
  
  • Initiatives to ensure adequate folic acid supplementation as a means of preventing many instances of neural tube defects are an example of primary prevention.
  • Secondary prevention includes newborn screening for selected congenital disorders, which, while not preventing the disorder itself, can eliminate or modify the effects of these disorders.
  • Often tertiary prevention is overlooked -- comprehensive expert care coordination uses evaluation and intervention in order to decrease or prevent the negative effects of a disorder.
  
  
• Need for expertise unavailable in the private sector. While collectively common, many genetic disorders are individually rare. Comprehensive, expert care of such disorders is often unavailable except through public support of specialized programs.
• Need for public financial support. It has been well documented that certain genetic services are grossly under-reimbursed. (Note 5) Compared to other medical services, genetic services are very time-intensive and reimbursement is most often about 1/4 of the actual cost of their provision. Furthermore, no method currently exists in Wisconsin to secure reimbursement for most of the services provided to patients by genetic counselors.
• Need for assurance of access to care. Certain aspects of genetic care (such as prenatal diagnostic testing) may receive adequate reimbursement. Because of this better reimbursement, private providers have been willing to offer these services. However, such private provider models have little incentive to assure access to other genetic services that are often more complex and time-intensive. Also, such models do not guarantee equal access to care regardless of economic or geographic factors.
• Screening. Population based screening (e.g. newborn screening, carrier detection) is a component of genetic service provision that does not easily fit most private models of care.
• Education. Public education is an essential part of the broader sense of genetic services, but it, too, is a component of genetic services that may not easily fit a private model of care.
• Policy development. Dramatic expansion in genetic knowledge and its applications require policy development as a central element of genetic service provision. Availability of new genetic technologies has raised ethical, legal and cultural issues to an extent unprecedented in recent medical history. Policy development fits best into a public health model of service.
• Surveillance. Birth defects monitoring and similar activities necessarily are within the public rather than private sector. These are activities that require participation of a wide range of providers from throughout the State in order to be useful.

Over the last four decades a complex, multifaceted set of genetics programs has arisen in Wisconsin. These include direct clinical care services, as well as activities ranging from screening programs and laboratory services, to educational activities and birth defects surveillance. Historically, service provision in genetics was primarily through University-based centers. Currently, Wisconsin has both public sector (e.g. University-based) and private service providers. Within the State, there are presently 17 board certified clinical geneticists (Note 6) and 29 board certified genetic counselors. (Note 7) These providers offer different components of care including:

• Comprehensive Clinical Care. Various 'levels' of clinical care (reflecting the comprehensiveness of the services offered) are provided within different settings throughout the state. (Note 8) (See diagram below.)
  
  
  One approach to defining levels of care is as follows:
  
  
  • University affiliated comprehensive programs. Two such programs exist in Wisconsin, at the University of Wisconsin-Madison and through the Medical College of Wisconsin and Children's Hospital of Wisconsin in Milwaukee. Such programs not only provide general genetic services, but also a variety of subspecialty clinical activities (e.g. skeletal dysplasias, neurofibromatosis, sensory deficits, sickle cell disease etc.). In addition, these units are central in continuing medical education and training of professionals in genetics.
    
    
  • Programs with a physician geneticist on site, providing regionally based general, and in some cases subspecialty, genetic services. Examples include the La Crosse Regional Genetics Program, and the Marshfield Clinic Genetics Program.
    
    
  • Self-contained health care system based programs with a physician geneticist on site. It is likely that this model will develop in this state in the future.
    
    
  • Programs with genetic counselor(s) on site that work with physician geneticists who are based elsewhere (either from level 1 or 2 programs or private providers). Examples are the programs in Green Bay and Neenah.
    
    
  • Outreach sites with or without a site-based coordinator, but without permanent, community-based genetic physicians or genetic counselors. Such outreach activities are provided in Eau Claire, Ashland, Rhinelander and Racine.
    
    
  • Private Providers - Various services are offered by other, private clinical geneticists and by privately employed genetic counselors. Most of these services are located in Milwaukee and the surrounding suburbs.

  LIFEline: Genetic Care in the Community

• Screening programs. Wisconsin has several screening programs, including the highly successful State directed newborn screening program, and various population-screening activities (such as for Tay-Sachs carrier identification in selected populations). With the continued progress of the Human Genome Project and related research, it is inevitable that such screening programs will expand in the future. It is likely that the Newborn Screening Program will continue to add other disorders just as hemoglobinopathies, congenital adrenal hyperplasia, and abnormalities of fatty acid metabolism have been added in the past. Also, entirely new populations may be offered screening, such as cystic fibrosis carrier detection for all pregnant women.
• Special programs. Although not strictly within the confines of genetic disorders, certain other care programs have by tradition (and default) been directed by geneticists in this State. They include, for example, the Teratogen Information Service (for counseling of families concerned about exposures in pregnancy) and the Stillbirth Service Program (a statewide service program for evaluation of the causes of intrauterine death).
• Laboratory services. Most laboratory services are available nationally. However, the presence of state-based cytogenetic, biochemical genetic and molecular genetic laboratories is beneficial because of the on-site expertise that laboratory staff can offer local genetic care providers.
• Educational activities. Genetic professionals in the State provide hundreds of programs each year to various groups with varied educational needs.
• Birth defects monitoring. The Wisconsin Birth Defects Prevention and Surveillance Program is charged with developing a surveillance system to monitor the occurrence of birth defects, which will facilitate the identification of their causes and guide prevention programs. Genetic professionals within the State are integrally involved in the development and implementation of this program.

An essential component of the generation of this Plan was self-assessment of the current status of genetic services in public health in Wisconsin. As a first step, the Council of Regional Networks for Genetics guidelines were compared with current structure and services in this State. A detailed summary of that comparison can be found in Appendix II.

Strengths

Based on that comparison the following strengths were identifiable:

• Presence of a genetic professional within the State system. A genetic counselor currently serves as Wisconsin's State Genetic Coordinator. This position is located in the Division of Public Health, Bureau of Family and Community Health.
• Existence of a well-established, well-respected and effective newborn screening program. It is estimated that 99% of all Wisconsin newborns receive newborn screening.
• Existence of active and highly successful outreach programs for care. The Statewide Genetic Services Network provides outreach genetic services in LaCrosse, Eau Claire, Green Bay, Neenah, Racine, Rhinelander, and Ashland.
• Emphasis on educational efforts in a variety of formats and for a variety of audiences. These efforts include a post-doctoral training program; a genetic counselor training program; extensive CME activity; teacher-educator programs; and programs for schools, for the public, and for various support organizations.
• Emphasis on ongoing management and comprehensive care of conditions `traditionally' viewed as genetic. Comprehensive care and specialty clinics are available for conditions such as sickle cell anemia and associated disorders, dwarfing disorders, neurofibromatosis, cystic fibrosis, genetic vision and hearing impairment.
• Presence of special expertise regarding the care of individuals with certain specific groups of genetic disorders. For example, biochemical genetics clinics are located in Madison and Milwaukee; craniofacial disorders clinics can be found in Madison, Milwaukee, and La Crosse; cancer risk counseling is available in Madison, Milwaukee, La Crosse, Marshfield, and Green Bay.
• Weaknesses were also identified. Planning for the future requires identification and exploration of current weaknesses that need to be addressed in greater detail. Weaknesses can be divided into two primary areas - those that relate to current service needs and those that arise because of anticipated future challenges.

Issue 1: Need for Ongoing Oversight of Clinical Genetics Activities. To this point, Wisconsin has had no formal oversight and planning process regarding genetic services. There is a need for an Advisory Council for Genetic Services that will engage all stakeholders in assessment, recommending change and advocacy.

Issue 2: Inadequate Documentation of Needs for Services. Data are inadequate to accurately estimate current needs, let alone needs for the future. Furthermore, there is no system in place to collect accurate data on individuals and families who receive genetic services. This is particularly difficult since it has proven challenging to coordinate data collection from all genetic care providers. In addition, no guidelines for minimal levels of genetic services for the State have been generated. On these bases there are currently no accurate data about what services should be provided, how extensive needs for those services are, or which service needs are currently inadequately addressed.

Issue 3: Insufficient Genetics Workforce. Recently Kaiser Permanente (a major health care organization serving various U.S. regions) internally estimated staffing needs for currently appropriate genetic services. (Note 9) Extrapolating those data to Wisconsin's population suggests that adequate service would require the presence of 20 clinical geneticists and 80 genetic counselors. Based on a census of currently board certified personnel in the State, currently there are approximately 12 full-time equivalent (FTE) clinical geneticists and 22 FTE genetic counselors in Wisconsin. In order to provide appropriate levels of service (not taking into consideration the issues addressed in the next section), the number of physician geneticists would need to be nearly doubled and the number of genetic counselors almost quadrupled to meet minimal standards. Such manpower shortages clearly have negative effects on equitable distribution of care; provision of comprehensive, ongoing care management; and effective teaching and education.

Issue 4: Lack of Adequate Funding. As noted, inadequate reimbursement for certain genetic services has been well documented. This has created a continued dependence on public funding. In addition, State funding for genetic services has, allowing for inflation, decreased each year since 1989. (Note 10) Non-self supporting services will be unable to continue if additional funding sources are not identified. Furthermore, there is no current mechanism to secure reimbursement for many of the services provided to patients by genetic counselors. Consequently there is limited public and private support for such counselor-based activities.

Issue 5: Challenges of Providing Equitable Care and Access to Care.

The Partnership for Genetic Services Pilot Program, sponsored by the Alliance of Genetic Support Groups (now the Genetic Alliance) identified the consumer indicators of quality genetic services (see Appendix V). The first identified priority was assurance that consumers will be referred to condition-specific specialists. However, inadequacies in the genetic workforce and the uneven distribution of manpower that does exist create a considerable challenge to assuring that all families in need will be appropriately referred. Fundamental barriers include those of availability and of access. In addition, a series of further obstacles may conspire to limit access to genetic services. These obstacles include:

• Physicians and other primary care providers who are unaware of the need and appropriateness of genetic referrals;
• Lack of awareness by other health care providers (such as public health nurses, social workers etc.) of the need for genetic services;
• Lack of consumer awareness and understanding regarding genetic services;
• Barriers imposed by third-party payers, special barriers for those who are uninsured or underinsured, and other structural barriers to access--
  
  • In 1998, 4% of Wisconsin residents had no health insurance of any kind in the previous 12 months and an additional 6% had health insurance for only part of the year;
  • Individuals who are members of minority groups, had less than a high school education and/or are in poverty are most likely to be uninsured; (Note 11)
  • Geography, since services that might be readily available in Milwaukee or Madison, for example, may be far more difficult to access in outlying regions;
  • Sociocultural barriers, including economic and language barriers;
  
  
• Attitudes and beliefs about genetic services, such as:
  
  • Lack of appreciation of the value of anticipatory medical care;
  • Issues of guilt, fear and other emotional barriers to seeking genetic services;
  • Inaccurate perceptions of the purposes of genetic services (e.g. that it is directive, that it is about abortion, that it is solely risk counseling, that it will inevitably lead to discrimination);
  • Myths about causes of birth defects and genetic testing.

LIFEline: Prenatal Assessment

Issue 6: Need for Stronger Collaborations among Geneticists and with Other Health Care Providers. Currently, there is limited interaction between public and private genetic care providers. Furthermore, there is an overall lack of awareness of the benefits and availability of genetic services among other health care providers. Finally, with the development of new genetic knowledge and its clinical application, a greater need for increasing integration of genetics into all aspects of medical care will arise.

Issue 7: Need for Additional Educational Activities, including for consumers, for health and social service providers, for public policy makers and for payers. In order to maximize the benefits of genetic advances, educational activities need to continue to be offered at all levels--

• Continuing medical education of physicians
• Postdoctoral training of physicians
• Graduate training of genetic counselors
• Teaching of medical students
• Teaching of other health care providers
• Continuing education of other health care providers
• Teaching of educators at all levels
• Informing the public
• Informing families, support groups and other family-centered programs.

Two issues of singular importance will have extraordinary effects on medicine in the new millennium: the explosion of new genetic knowledge and changes in health care delivery. These issues and several others will have marked consequences for clinical genetic services. From each issue, certain barriers to effective genetic service provision may arise. Because this document is intended to act as a guide to future actions, challenges are emphasized. However, each potential barrier can be viewed as providing opportunities for recruiting new advocates, welding new partnerships, expanding the scope of services and, ultimately, improving genetic care.

Issue 1: The New Genetics. While extraordinarily exciting, new genetic technologies are of concern to genetic health care providers. Through the Human Genome Project, an explosion of information will become available over the next decade that will revolutionize not just clinical genetics but all of medicine. A draft map of the human genetic makeup is complete. Current breakthroughs are mostly related to single gene disorders traditionally thought of as being genetic in origin. However, the genetic factors that play a role in common disorders such as various forms of cancer, heart disease, and asthma are being identified with increased frequency.

In the not so distant future, the potential for identification of genetic predisposition in a much more global sense will be feasible. This will lead to the potential for widespread presymptomatic testing, far more extensive population screening, gene-specific strategies for therapy, and medical treatments tailor-made for the genetic makeup of the individual (i.e. pharmacogenomics). Why might these be the ingredients for a crisis? On the one hand there are far too few physician geneticists and genetic counselors to handle the needs that will arise. On the other, most physicians feel that they currently lack an adequate background in genetics to offer these services themselves. (Note 12) Yet the impact that such possibilities may have on preventive health care is enormous.

The promise of the new genetics is manifold. There will be a vast increase in the ability to make accurate diagnoses. Increased understanding of the causes of genetic disorders will lead to better treatment options. An explosion of beneficial population-based screening tools will be developed. Medication based on genetic information (pharmacogenomics) and gene therapy will likely become routine.

Challenges of this new paradigm of genetics in medical care may likewise prove to be massive. "Genetics is everywhere" will be truer than ever. Issues of an insufficient genetics workforce may prove overwhelming. Ongoing genetic education and training may require so much time from geneticists and genetic counselors that provision of direct services may suffer. In addition, a series of risks will need to be addressed. For example, how will the individual be protected given the potentials for discrimination (e.g. in insurance coverage) and loss of privacy (e.g. in the workplace)? Will third parties coerce individuals into genetic testing (either overtly or implicitly) and then discriminate based on the results? Will individuals opt for unneeded testing or rush to be tested without adequate consideration of the consequences?

LIFEline: The New Genetics

Issue 2: Changes of the Healthcare Marketplace. The second major issue facing genetic service provision concerns health care financing and models of health care provision. The U.S. health care industry has become a far more competitive marketplace with increasing influence of various models of managed care. As a new specialty, Medical Genetics is problematic for many managed care organizations--how necessary are the services; are services cost-effective; what are the costs of "genetic benefits"? While it is easy for any medical specialty to claim that the need for its services is self-evident, it is likewise easy for managed care organizations to dismiss this assertion as self-serving. Furthermore, many medical directors have little experience with the role of geneticists in the health care delivery system and have very little formal training in genetics. Such factors may contribute to a series of issues that make provision of comprehensive genetic services within managed care organizations a greater challenge:

• In a cost-conscious setting, genetics may be seen by some to be an expendable luxury. The care of traditional genetic disorders is costly, resulting in more than a third of pediatric hospital admissions (Note 13) and about 10% of adult admissions. In addition, individuals with genetic disorders often require outpatient care by multiple subspecialists.
• The first priority of consumers of genetic care is the ability to be referred to condition-specific specialists, even if out-of-plan (see Appendix V). However, few, if any, managed care organizations are large enough to support "supersubspecialists" (i.e. geneticists with special expertise in a particular group of genetic disorders).
• Many of the benefits of genetic care are not easily evaluated by evidence-based criteria. Subtle yet important benefits such as change in attitude, development of autonomous decision-making, alteration of reproductive choices, and impact on the medical care of extended family members do not conform to typical cost-effectiveness assessments. (Note 14) Not all benefits of genetic care result in measurable changes in outcome, but absence of any change of action should not be viewed as a failed interaction.
• Since traditional genetic disorders are individually rare, it is exceedingly challenging to develop evidence-based care guidelines for each of them. This may become a greater issue in the future if supersubspecialists, who see and care for relatively large numbers of individuals with a particular rare disorder, are no longer available.
• Some models of managed care do not focus adequate resources on education, training and a public health orientation, all of which are, and should be, central to genetic care in its broader sense.

Despite these problems, many partnerships exist between geneticists and managed care organizations which are mutually beneficial and should be encouraged. Areas of potential cooperation and collaboration include issues of quality of care, access to appropriate health care providers, technology assessment, patient satisfaction and patient and provider education.

Issue 3: Transitions to adulthood. A third challenge of the future relates to a change in the focus of genetic care provision. Historically, physicians trained in pediatrics and supported by pediatric focused funds have provided most clinical genetic care. Such an emphasis was appropriate since the greatest needs were present in children. However, many children with severe birth defects who in the past would have succumbed to their disorder, are now surviving into adulthood. Who will continue to provide comprehensive care to these individuals as they more frequently reach adulthood? Affected individuals and their families will need to establish collaborations with both public and private service planners in order to assure continuing comprehensive services during this transition.

Issue 4: Adult-onset disorders. The new genetics that promises to provide information about predispositions to adult-onset diseases also implies a far greater emphasis on adult genetics than is currently the case. As this occurs, modifications of education, training and funding will need to more adequately be addressed. Some experience has accumulated regarding provision of genetic services to individuals at risk for certain adult-onset diseases. For example, providers and consumers in cancer genetics programs have experience that may assist in planning models of care for other adult-onset disorders.

The workgroup quickly recognized that a large number of issues face genetic services in the future. It had neither the resources nor time to find solutions to all of the problems it identified. Instead, it elected to make this summary one of needs identification rather than solutions. The workgroup identified a number of issues that need to be addressed and, in this section, suggests directions, approaches, and possible key players to finding solutions.

Cluster 1: Advisory Council

In order to continue its work the workgroup recommends that a standing Advisory Council for Genetic Services be established through legislative mandate and modeled after the Newborn Screening Advisory Group and Council on Birth Defects Prevention and Surveillance. It should have broad representation, including various care providers, State representatives, consumers, support organizations and other interested parties. This Advisory Council for Genetic Services should be charged with continuing the assessment of the status of genetics and providing guidance regarding all of the following recommendations.

KEY PLAYERS: State Plan Workgroup, Newborn Screening Advisory Group, Council on Birth Defects Prevention and Surveillance, Genetic Care Providers, Non-genetic Care Providers, Consumers, Consumer Advocacy Groups, Healthcare Payers, Department of Health and Family Services, Legislators, Local Public Health Departments

Cluster 2: State Presence

Currently the only position in the Wisconsin Division of Public Health devoted to genetics is the State Genetic Coordinator. This position is located in the Bureau of Family and Community Health and is funded with monies from the Newborn Screening Program. While of great value, a single position, lacking in visibility and influence, is insufficient. Positions that are devoted to genetics are needed to advocate for genetics at the State level, especially related to funding, but also with respect to:

• education;
• grant administration;
• screening programs;
• prevention;
• serving as a resource regarding genetic issues in public health;
• conducting needs assessments;
• program monitoring;
• evaluation;
• overseeing genetic competencies within public health initiatives (comparable to Turning Point--the State Health Plan).

Although in the short term it is not realistic to change the placement of genetics in the state public health organization, ultimately genetics in public health needs to be a program with more than one position at the State level and with greater autonomy and influence than exists currently. This program would be charged with coordinating and monitoring all genetic services in the State, overseeing the transition of emphasis to include adult disorders and disease predisposition, and providing liaison to existing public health groups. Its placement within the Division of Public Health should be the one to enhance connections with other relevant areas of public health. Within the newly established program, and in addition to genetic professionals, serious consideration should be given to the creation of a position for consumer/patient liaison. Strong consideration should also to be given to establishing a State genetic epidemiologist position.

KEY PLAYERS: Department of Health and Family Services, Genetic Care Providers, Consumers, Consumer Advocacy Groups

Cluster 3: Service Issues--Assessment and Quality Assurance.

The Advisory Council should devise means of assessing current genetic services including:

• Developing a State definition of minimum standards for clinics providing genetic services;
• Establishing means of licensing genetic counselors and certifying centers that provide genetic care;
• Considering the need and subsequently what mechanisms might be used to similarly identify, assess and certify comprehensive prenatal diagnostic centers;
• Reviewing published cost-effectiveness data regarding genetic care and devising ways of disseminating this information to the broader community;
• Generating quality assessment and care guidelines for such selected disorders;
• Reviewing published guidelines for care and reimbursement in the context of genetic services in Wisconsin. These include, for example, information from official guidelines of the American College of Medical Genetics, the American Society of Human Genetics and the National Society of Genetic Counselors; Secretary's Advisory Committee on Genetic Testing guidelines; Hayes Technical Assessments; Aetna Coverage Policy Bulletins;
• Developing quality assessment models for selected disorders and devising ways in which quality assessment information can be generated. Examples of disorders that may be initially amenable to such an assessment include sickle cell disease, genetic testing for breast and ovarian cancer, stillbirth assessment, and teratogen information services;
• Exploring alternative means of assessing quality of services. These could include structured assessment of satisfaction with care, measures of changes in knowledge, measures of changes in perceptions related to genetic counseling and others;
• Developing a position statement to address the difficulties of establishing standards of care for rare disorders;
• Assuring that consumers and their families are involved in all levels of assessing services and establishing guidelines for care.

KEY PLAYERS: Department of Health and Family Services, Genetic Care Providers, Consumers, Consumer Advocacy Groups, National Organizations (e.g. American College of Medical Genetics, American Society of Human Genetics, National Society of Genetic Counselors, etc.), Department of Regulation and Licensing, Healthcare Payers

Cluster 4: Service Issues--insufficient genetics workforce

In collaboration with the Wisconsin Birth Defects Prevention and Surveillance Program and others involved in collecting epidemiologic data that concern genetic processes, the Advisory Council should generate a needs assessment methodology and provide recommendations regarding manpower needs in genetics within the State. Essential activities within this cluster include:

• Taking an accurate census of genetic care providers and a measure of their activities;
• Providing an estimate of current and future needs based on available data from sources such as the Kaiser Permanente assessment;
• Identifying means of encouraging genetic training programs within the State in order to meet the anticipated needs in the future.

KEY PLAYERS: Department of Health and Family Services, Genetic Care Providers, University-Based Training Programs, Healthcare Payers

Cluster 5: Service Issues--Financing Genetic Services

Without additional public or private funding, access to genetic services will be limited and the ability of genetic providers to respond to the explosion of new information and new options will be severely hampered. What should be the State's financial commitment? What options for additional service funding should be pursued? The Advisory Council should explore options for funding additional services and should review methods used in other States. In addition, it should:

• Seek a legislative mandate assuring adequate reimbursement of all types of genetic services;
• Identify and seek implementation of methods to allow billing for genetic counselor services;
• Identify possible additional and alternative public or private sources of funding for genetic services;
• Assess financial obstacles to accessing newly available genetic services, including issues related to reimbursement for molecular testing, coverage of testing of family members, etc.;
• In collaboration with third party payers, establish criteria and priorities for services to be provided and identify priority target groups for such service provision.

KEY PLAYERS: Department of Health and Family Services, Genetic Care Providers, Consumers, Healthcare Payers, Department of Regulation and Licensing, Division of Health Care Financing, Medicare/Medicaid, Legislators

Cluster 6: Service Issues--Access

It is imperative that provision of genetic care in Wisconsin is appropriate, comprehensive, and longitudinal regardless of health insurance status. Primary health care providers need to appropriately make available referrals for consultation with genetics professionals. In order to facilitate this, the Advisory Council should develop a position statement regarding the special features of genetic services and the need to assure access to diagnosis-specific genetics experts. In addition, this strategic plan and subsequent materials generated by the Advisory Council should be widely distributed to both health care providers and payers.

A handbook of available genetic services in Wisconsin based on recognized quality standards (see Cluster 3) should be developed, published and distributed. Consideration should be given to sponsoring of a "genetic health summit" to discuss:

• access to genetic care;
• perceived barriers to access;
• insurance and managed care issues;
• issues of confidentiality and discrimination.

One option that may improve access regardless of geography is telemedicine. However, providing long distance care in this manner presents considerable obstacles. The Advisory Council should explore telemedicine options, particularly with regard to issues of legality, practicality, effectiveness and reimbursement.

KEY PLAYERS: Department of Health and Family Services, Children with Special Health Care Needs (CSHCN) Regional Centers, Genetic Care Providers, Non-genetic Care Providers, Consumers, Consumer Advocacy Groups, Healthcare Payers, Local Hospitals and Clinics, Wisconsin State Medical Society, Wisconsin Hospital Association

Cluster 7: Collaborations

Although collegial interactions prevail among most clinical geneticists in Wisconsin, it is the sense of this workgroup that improved collaborations are both desirable and feasible. Mechanisms that may be explored include

• Formalizing relationships among geneticists through existing organizations such as the Greater Wisconsin Genetics Exchange and the Wisconsin Genetic Counselors Committee;
• Exploring means of forging closer collaborative ties among clinical geneticists, laboratory services and prenatal diagnosticians;
• Exploring means of establishing collaborative activities between managed care organizations and genetic care providers, particularly regarding access, cost and consequence assessments, technology assessment and educational activities;
• Exploring methods of establishing closer ties between providers of care and families, support groups and advocacy organizations. Families, support groups, and advocacy organizations may prove pivotal in establishing the impetus for collaboration between geneticists and other specialties mentioned above.

KEY PLAYERS: Genetic Care Providers, Non-genetic Care Providers, Healthcare Payers, Consumers, Consumer Advocacy Groups

Cluster 8: Issues Related to the New Genetics

As already emphasized, new genetic technology and new diagnostic methods will not only change the face of genetic services, but also fundamentally change the practice of medicine in general. For genetics, the most pressing issues will be related to adequate education of primary care practitioners and to genetics workforce limitations. Recommendations to be addressed by the Advisory Council include:

• Generating recommendations for primary care education related to molecular diagnostics;
• Exploring alternative counseling models and generation of recommendations regarding their use;
• Developing and monitoring programs that ensure that genetic tests and services are integrated into population-based interventions that promote health and prevent disease and disability.

KEY PLAYERS: Department of Health and Family Services, Genetic Care Providers, Non-genetic Care Providers, Consumers, Consumer Advocacy Groups, Educators, Healthcare Payers

Cluster 9: Education Related Issues

The workgroup is convinced that educational initiatives are fundamentally important to the future viability of genetic services. Educational efforts should be directed towards physicians, other health professionals, administrators, State personnel, legislators, the public and those in need of direct genetic services. Initiatives should include:

• Creating a Statewide Genetics Website including subsections for professionals and for consumers/the public. It should include linkages to sites of relevance to genetic care;
• Developing a plan to expand educational programs, including recommendations for funding such activities. Specific activities should include:
  • Exploring possible partnerships with the March of Dimes, Wisconsin Association for Perinatal Care, Wisconsin Public Health Association, consumer and support groups, and others;
  • Developing and maintaining a speakers bureau;
  • Developing an `experts list' of both geneticists and consumers for the media;
  • Identifying alternative educational strategies and of methods for funding of unique or experimental educational approaches;
  • Exploring creation of a Wisconsin Organization for Rare Disorders;
  • Exploring methods of improving educational opportunities for
    • Medical students and residents in all specialties;
    • Practicing physicians (particularly related to new genetic technologies);
    • Nurses, nurse practitioners, physician's assistants and therapists;
    • The public, including publicizing the existence of:
      • Available resources, speakers, etc.
      • Genetic Alliance, Ambassadors for Awareness etc.
    • Legislators and other public officials;
  • Surveying current requirements for genetic education of each healthcare professional group trained in the state and generating a position statement on the need for such training. (Note 16)

KEY PLAYERS: Department of Health and Family Services, CSHCN Regional Centers, Genetic Care Providers, Non-genetic Care Providers, Consumers, Consumer Advocacy Groups, Educators, Universities, Medical Schools, Schools of Allied Health, Healthcare Payers, March of Dimes, Wisconsin Association for Perinatal Care, Wisconsin Public Health Association, Genetic Alliance, National Organizations (e.g. ACMG, ASHG, NSGC, etc.), National Coalition for Health Professional Education in Genetics, Local Hospitals and Clinics, Wisconsin State Medical Society, Media

Finally, among its other activities, the Advisory Council may function as a primary source of information dissemination about new tests, new methods of assessment and other issues of relevance to the larger community.

We fully recognize that these recommendations are too numerous and too challenging to be addressed simultaneously. The Advisory Council will have, as its first task, further prioritizing these needs.