"Genetics is everywhere" and it concerns ALL of us. Research such as the Human Genome Project is quickly bringing genetics into the forefront of medicine, promising cures for disease through gene therapy and more effective drugs that are tailored to a person's genetic make-up. Genetics is expanding beyond issues related to birth defects and rare genetic disorders that primarily affect children. We are learning that most disease is caused by an underlying genetic susceptibility that is then modified by a host of environmental factors. Genetics is becoming integrated into healthcare across the entire life cycle as more and more is learned about the role of genetics in disorders such as asthma, diabetes, heart disease, and cancer. As this integration is occurring, both medical, ethical, legal, and social challenges are arising and the needs for genetic services are increasing. How will we, as a community, be able to respond to the ever-increasing impact of genetic knowledge?

A multidisciplinary workgroup funded by a grant from the Health Services and Resources Administration (HRSA) created this Plan. The Plan is directed to all individuals who have a stake in the future of medical genetic services in Wisconsin. These include, but are not limited to, genetic professionals, primary care providers, other health care providers, governmental representatives, policy makers, legislators, educators, third party payers, and current and potential consumers.

Mission of Genetics in Wisconsin

The current system of genetic services in Wisconsin includes direct clinical/medical care services as well as activities ranging from screening programs and laboratory services, to educational activities and birth defects surveillance. Until now, planning related to how best to provide these and other genetic services has been limited. However, this type of planning is especially needed given the current explosion in genetics information and technology. The "Genetic Services Plan for Wisconsin" is one step in the process of planning for the future provision of genetic services for the people of Wisconsin.


What is the "Genetic Services Plan for Wisconsin"?

The Plan is a problem-oriented, needs-identification guide for addressing current and future challenges that will likely affect the provision of genetic services in Wisconsin. Recommendations are presented and are intended to be starting points for the development of future solutions. The Plan should be viewed as a "work in progress" that will be modified periodically over the coming years.

Background Information about Genetics and Genetic Services

• Is genetics really "everywhere"? Genetics can have an impact at any point in the life cycle--before and during pregnancy, in newborns, in children, in adults.
• What does "genetic care" involve? Two primary approaches have been involved in the provision of comprehensive genetic care: the medical model and the counseling model.
• Who provides genetic care? Currently, individuals with special training and expertise in genetics provide a large portion of genetic care. However, as more is learned about the role that genetic factors play in various disorders, many different specialists will likely assume new roles as interpreters of genetic information for their patients. In addition, genetic support groups and peer group organizations currently are and will continue to be integral parts of the genetic care provider network.
• Guiding principles of genetic care provision. Any plan for genetic services must be consistent with fundamental principles of all public health activities--family centered care, community-based access, leadership and collaboration, utilization of family resiliency, culturally competent care.
• What are the benefits of genetic care? Expected benefits of comprehensive genetic services include educating patients and families, assuring informed, autonomous decision-making, and providing anticipatory guidance for health care.
• Why should genetics be in the public sector? Sustaining involvement of the public sector in medical genetics is important for many reasons--emphasis on prevention, need for expertise unavailable in the private sector, need for public financial support, need for assurance of access to care, screening, education, policy development and surveillance.
• Structure and services. Currently, Wisconsin has both public sector (e.g. University-based) and private service providers who make available several different components of care including: comprehensive clinical care, screening programs, laboratory services, educational activities, and birth defects monitoring.

The current status of genetic activity in Wisconsin was compared with guidelines developed by the Council of Regional Networks of Genetic Services. Based upon this comparison, strengths and weaknesses of current genetic service programs were identified.

• Strengths. Some of the identified strengths are in the areas of: outreach programs for care; educational efforts; newborn screening; comprehensive care of "traditional" genetic disorders.
• Perceived weaknesses and challenges. Problems and challenges that need to be addressed in greater detail were divided into two primary areas--those that relate to current service needs and those that arise because of anticipated future challenges.
• Current service needs. Problems related to current service needs were categorized into seven main issues:
  1. Need for ongoing oversight of clinical genetics activities.
  2. Inadequate documentation of needs for services.
  3. Insufficient genetic workforce.
  4. Lack of adequate funding.
  5. Challenges of providing equitable care and access to care.
  6. Need for stronger collaborations among geneticists and with other health care providers.
  7. Need for additional educational activities.
• Challenges for the future. Problems and challenges related to anticipated challenges for the future were categorized into four main issues:
  1. The new genetics.
  2. Challenges of the healthcare marketplace.
  3. Transitions to adulthood.
  4. Adult-onset disorders.

Recommendations presented in the Plan are not intended to be specific solutions. Instead, they are to be viewed as guidelines for directions and approaches to finding solutions to the numerous issues that face genetic services in the future. Recommendations are organized into nine primary clusters:

1. Advisory Council. An Advisory Council for Genetic Services should be established. This Advisory Council should be charged with continuing the assessment of the status of genetics and providing guidance regarding Plan recommendations.
2. State Presence. There is a need to consider where genetics should be placed in the state public health organization. Consideration should also be given to establishing positions for a State consumer/patient liaison and a State genetic epidemiologist.
3. Service Issues--Assessment and Quality Assurance. The Advisory council should devise means of assessing current genetic services.
4. Service Issues--Insufficient Genetics Workforce. A survey of current genetic care provision and how it is meeting the existing needs is a necessary first step in order to address the anticipated future genetic needs of our state.
5. Service Issues--Financing Genetic Services. Options for additional funding must be explored. Without additional 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.
6. Service Issues--Access. Access to appropriate, comprehensive, and longitudinal care regardless of health insurance needs to be assured.
7. Collaborations. Steps should be taken to improve collaborations among genetic professionals as well as between genetic professionals and others (e.g. non-genetic health care providers, managed care organizations, families, support groups, advocacy organizations).
8. Issues Related to the New Genetics. New genetic information and discoveries will likely change the face of genetic services, as well as fundamentally change the practice of medicine in general. For genetics, most pressing issues will be related to adequate education of primary care providers and to manpower limitations. Both of these issues will need to be addressed to adequately care for all Wisconsin families.
9. Education Related Issues. Educational initiatives are fundamentally important to the future viability of genetic services. Educational efforts should be directed towards physicians, other health care providers, administrators, governmental representatives, legislators, the public and those in need of direct genetic services.

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.