Recently CORN developed of set of comprehensive Guidelines for Clinical Genetic Services for the Public's Health. (Note 1) Given that the former director of this State's largest clinical genetic center, Dr. Renata Laxova, had primary responsibility for drafting these guidelines, it is not surprising that genetic services in Wisconsin closely reflect the recommendations made there. Nevertheless, while services as a whole conform to the recommendations of the CORN guidelines, clearly substantive deficiencies exist. Likewise, certain of those deficiencies will reach critical proportion because of the issues discussed above.

The following highlights areas of strength and weakness in genetic services in Wisconsin with respect to the CORN guidelines.

Strengths of Clinical Genetics in Wisconsin

1. Organization and Administration
   
   I.A State/Territorial Genetic Coordinator/Educator
   
   

   A genetic counselor serves within the State system as genetic coordinator. Most (but not all) of the recommended activities within this guideline are currently being carried out.
   
   I.D.1 Structure of the State/Territorial Genetic Services Network
   
   

   Through the efforts of many providers, various models of care are extant within the network of genetic services. Indeed, as the University-based clinical genetic program developed, it was predicated on the assumption that outreach activities, in particular, would evolve through greater and greater levels of sophistication and autonomy. Just such an evolution has occurred. Currently in this State there are two, large comprehensive University-based genetic centers, two genetics units within managed health care facilities, seven outreach genetics sites, as well as approximately five private, for-profit independent provider groups.
   
   I.D.2 Types of Services
   
   

   Within those that are University-based or University-affiliated, considerable emphasis is placed on providing family center care. In addition, active screening programs are extant including: prenatal screening (available through the State Laboratory of Hygiene); newborn screening (through the State Laboratory of Hygiene) and follow-up (coordinated by the State and provided in the Biochemical Genetics Clinic and through other providers); birth defects monitoring, through the newly established Program and Council on Birth Defects Prevention and Surveillance; teratogen information services, with a large centralized service in Madison, and smaller programs in Milwaukee, La Crosse and Green Bay; a statewide community based stillbirth assessment program.

   In addition, there is an extensive educational effort coordinated for the most part through the University Clinical Genetic Center providing outreach education to medical professionals, other professionals (e.g. teachers) and for the public.
   
   I.E.1 Assurance
   
   

   Formal policy of the Clinical Genetic Center of the University and of Children's Hospital of Wisconsin assures access regarding all listed attributes. The State has little control over access to other providers.
   
   I.E.2 Education
   
   

   As noted, the University-based programs have placed great emphasis on community and consumer education.
   
   I.E.3 Referral
   
   

   While referral to providers in this State is straightforward, managed care impediments are not infrequently extraordinarily difficult to overcome. Development of an "efficient referral system" will require more than the good will of clinical geneticists.
   
   I.E.4 Quality of Service
   
   

   All University-affiliated programs in the State are appropriately compliant. All University-affiliated providers are Board certified or Board eligible.
   
   I.E.5 Privacy and Confidentiality
   
   

   Compliant.
   
   I.E.6 Ethical and Legal Standards
   
   

   Compliant.
   
   

2. Prevention
   
   
   1. Primary Prevention
      
      II.A.1 Folic Acid Prevention of Neural Tube Defects
      
      

      The State of Wisconsin, in collaboration with the March of Dimes and genetic providers undertook a folic acid education campaign and folic acid alert. There has been no direct measure of its impact, however.
      
      II.A.2 Prenatal Exposures
      
      

      As noted a central Teratogen Information Service is available at the University of Wisconsin-Madison, with additional informational sites in Milwaukee and La Crosse.
      
      II.A.3 Maternal Disease Management
      
      

      Specific collaborations with high-risk obstetricians are in place but such collaborations are in no way codified or formalized.
      
      II.A.4 Preconceptional Counseling
      
      

      Preconceptional counseling is, in general, readily available (given the universal difficulty of successful referral related to third party payers).
      
      II.A.5 Adult Onset Disorder Counseling
      
      

      Cancer risk counseling, in particular, has expanded extraordinarily rapidly. In Madison a large effort, in collaboration with Comprehensive Cancer Center, is in place. Clinics devoted to such counseling also are now available in Milwaukee and La Crosse. Other adult-onset disorders have not yet had specific programs developed.
      
      

   2. Secondary Prevention
      
      II.B.1 Newborn Screening
      
      

      The State's newborn screening program is well established with comprehensive follow-up and oversight by a Newborn Screening Advisory Group. This state has been a leader in assessing and incorporating additional disorders into the newborn screening program.
      
      II.B.2 Prenatal Screening
      
      

      Prenatal screening is provided, for the most part, through private providers. Virtually by definition this means that coordination is generally lacking and access spotty.
      
      II.B.3 Other Screening
      
      

      Selected screening programs are currently extant including ones for cancer and for Huntington disease, for example.
      
      

   3. Tertiary Prevention
      
      

      In general, University-based clinics in this State have emphasized, more than most, ongoing management and care (as opposed to being primarily or solely diagnostic clinics) of individuals with very specialized health care needs.

   
   
3. Services
   
   
   1. Types of Service
      
      III.A.1 Family Focused Services
      
      

      All sites throughout the State have the equivalent of general genetic clinics. The primary biochemical genetic clinics are located in Madison and Milwaukee. Single disease programs are found throughout the State, including, for example, sickle cell programs in Milwaukee, craniofacial disorders clinics in Madison, Milwaukee and La Crosse, the Comprehensive Cancer Center in Madison etc. Prenatal clinics are, for the most part, in the private sector. Close collaboration exists between the two prenatal diagnosis centers in Madison and the Clinical Genetic Center there.
      
      III.A.2 Population Oriented Services
      
      

      All screening programs listed are currently available.
      
      III.A.3 Clinical Laboratory Services
      
      

      In addition to private cytogenetics laboratories, two are affiliated with the University of Wisconsin. A central Biochemical Genetic Laboratory is also located there. Selected molecular diagnoses are carried in the Molecular Genetic Laboratory of the University of Wisconsin, and elsewhere, including by various private care providers.
      
      III.C Facility Requirements
      
      

      The public providers are compliant for all guidelines provided including those related to physical facilities, access, accreditation, cultural appropriateness, quality assurance, consumer involvement, administrative organization, contractual arrangements, protocols, billing policies etc.
      
      III.D Staffing and Credentialing
      
      

      There are currently approximately 16 Board certified M.D. geneticists and 34 genetic counselors in the State, as well as individuals within all of the other specialty categories listed. All of those affiliated with University-based programs are appropriately certified.
      
      III.E Components of a Genetic Evaluation
      
      

      All of the activities of University-based programs are fully compliant with these recommendations.
      
      III.F Patient Records
      
      

      All of the activities of University-based programs are fully compliant with these recommendations.
      
      III.G Human and Legal Rights
      
      

      All of the activities of University-based programs are fully compliant with these recommendations.
      
      III.H Quality Assurance
      
      

      All of the activities of University-based programs are fully compliant with these recommendations.

   
   
4. Research
   
   

   Active collaborative clinical research is ongoing. All research activities are aware of issues of informed consent, confidentiality, risk etc. and all research activities are evaluated and approved by appropriate Protection of Human Subjects Committees (Institutional Review Boards).
   
   

5. Education
   
   

   Education and training have traditionally been strengths of Genetic programs in this State. They remain so. Such activities include hundreds of individual presentations to thousands of consumers, physicians, teachers and others each year. They include special ongoing programs such as Summer Teacher Enhancement Workshops, Primary Care Education in Genetics programs etc.

Using the CORN Guidelines, two groups were constituted with the leadership of the University of Wisconsin Clinical Genetic Center and the State Genetic Coordinator in 1997-1998. Termed "The Future of Genetics in Wisconsin: Vision for Care", and "The Future of Genetics in Wisconsin: Prospects for Funding", these groups grappled with issues already summarized. They identified a list of problems that genetic care provision needed to face. Most related to the issues of the impact of the molecular genetic revolution, manpower, funding, relationships with managed care providers and needs for further grass roots education about the importance of genetic services. These initial discussions form the basis for the far more extensive consideration developed here.