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Consumer Issues in Genetics Services Vol. 8: Winter, 1992

• Providing Genetic Information to Native Americans
• Geographic Considerations in Genetics Services
• The Financial Management of Genetic Services

Providing Genetic Information to Native Americans
by Susan O. Lewin, M.D. (Medical geneticist)
and Elizabeth Whiteman Run Him (Health Department Education Coordinator)

The provision of services to Native American families with a genetic disorder requires special considerations. Medical professionals talk of nondirective counseling, and make efforts to offer a patient or family genetic information so that they can make an informed decision that is appropriate for themselves.

We do this carefully, but often, when we talk with a person of a different ethnic group or cultural background, we continue to operate out of our own cultural and ethnic assumptions, so that we judge outcomes and interactions from those assumptions. If the outcome is consistently different from what we would expect, we judge that we have failed, rather than being aware that our approach may not have made sense, may have been offensive or against accepted norms for the person receiving the information.

The most likely way to succeed, assuming goodwill on both parts, is to suspend one's own ethnicity and culture in judging the outcome and to be open and willing to learn about the patients background. In this way one is more likely to be able to provide the information that is considered important and have it be heard. The patient will receive that information in a way that may be useful in making a decision that is wise for their health, and does not place them at odds with themselves, their family or their community. The following are some simple general statements that may be helpful:

• Honor the "barrier" - it doesn't mean right or wrong, it means different.
  
• Cultural norms may be very different - what is humorous for me may be extremely offensive to you. A child with a malformation may be perceived and treated differently than what you consider appropriate. If a family doesn't want medical intervention, is there a concern about interfering with a divine process? What is their belief about the cause of multiple miscarriages - a past infidelity?

  It doesn't mean that life is valued less or children are loved less. The challenge is for the counselor to find out the underlying assumption, and if you can be of help, to work within the patient's cultural system to integrate investigations such as chromosome studies or treatments such as physical therapy into a program that also enables emotional / spiritual health and perhaps a visit to a native medicine person.
  

• High priority for you may not be high priority for your patient. This may range from the simple, such as coming to an appointment on time, to what appears more significant, such as failure to follow through on recommendations that could prevent significant pain or even death.
  
• Do not assume homogeneity of belief and tradition between tribes. Each tribe has a different history, culture and set of traditions despite many similarities. There are many similarities between Christians and Jews, or between Greek Orthodox and Russian Orthodox cultures, and also vast differences.
  
• Do not assume that all tribe members will operate from the same life style or belief system. An acting-out adolescent in labor is not likely to be operating from the same set of beliefs as an elderly woman who has lived on a rural part of a reservation all her life or from a university-educated tribe member who has chosen to reembrace traditional culture.
  
• Allow enough time to get to know your patients and for them to get to know you, to develop a trust relationship in which it is safe to talk about sensitive issues. This may mean several visits. Many issues such as sexual function may be talked about freely between men and between women, but they may not be talked about between the sexes. Raising such issues in the office, especially across gender boundaries, may need to be done separately and / or by a male in some circumstances and by a female in others.

  Take the trouble to know something about the tribal customs and traditions of the people you are serving. An approach which honors the custom and provides improved health and well-being or outcome is a winning approach for everyone.
  

• Also know the physical norms for the tribe you are working with. Is the average birth weight and height higher or lower than for the population you consider baseline? What about the face structure, ear configuration, motor milestones? A child who is not walking at 15 months may be significantly motor delayed in one tribe and normal in another.
  
• What appears to be a major ethnocultural barrier may in fact be a socioeconomic or geographic barrier.
  
• Proceed with humility and respect. Maintain a sense of humor about yourself.

Geographic Considerations in Genetics Services
by Sheila Tunnel, M.D. Medical Geneticist

Genetic counseling and related services as well as multi-specialty clinics are generally provided at major university medical Genetic centers. A group may be underserved for such genetic health needs for many reasons. Poverty, language, ethnic, cultural, religious and philosophical differences as well as geographic isolation, particularly in rural areas, often prevent individuals from obtaining genetics services.

The problem is further complicated by the lack of generally available medical care throughout the country. Often genetic services are available free of cost through state subsidized genetic services, but follow-up is always coordinated with primary medical care, and in rural areas such follow-up becomes more complex as individuals frequently are seen locally for direct management of the genetic problem. Coordination by local facilities with the genetic services of the large medical genetic clinics can remove some barriers to genetic services. Individuals who have been seen at least on a consultative basis at a genetic center can access the system for follow-up for genetic counseling and for evaluation of relatives who may be at risk.

However, there is a very large segment of the population in the rural areas who do not have access to any of these facilities and who may not know that they exist. For many individuals with birth defects or genetic disorders, there is a feeling of isolation because there appears at least superficially to be no available genetic services in their area, or such genetic service may be fragmented. Support groups for specific genetic disorders can be very helpful in giving affected individuals the name of a local clinic or individual that can continue their follow-up care.

Education regarding genetic disorders and birth defects is the backbone to making genetic information available to patients and to the general population. Developmental programs (which already deal with the families of children with ongoing handicaps) and Public Health Services ( where individuals with chronic, often genetic disorders are seen) can tell clients about the availability of information and help for individuals who have genetic disorders or birth defects.

National organizations of genetic support groups such as the Alliance of Genetic Support Groups, The National Organization for Rare Disorders (NORD), and the Council of Regional Networks (CORN), as well as individual support groups which function in local communities, are helpful in communicating with families who have a diagnosis of a genetic disorder or birth defect.

It is important for the general population and for our communities and community services to realize that hereditary disorders can begin any time in life - from birth to senescence. Birth defects and their problems may be more severe in impact at the time of their diagnosis, but they do not resolve with adulthood which may bring new and different problems. General supportive services for the families need to be put in place in local communities, so that local care can be coordinated with the medical health care facility where the individual receives his more complex management.

The more information that can be imparted to the general population regarding birth defects, genetic disorders can chronic handicapping conditions, the more likely that there will be tolerance and sensitivity to individuals and families with these types of disorders. In addition, it will be less burdensome for a family to seek out more care and support if information is available in the local and general communities through newspapers, radio, magazines and television. As more information is distributed to the general public, individuals with chronic disorders will feel less isolated and handicapped.

It is only through dissemination of information and access to care that affected families are going to find support in an isolated rural area. Facilities currently available in rural areas need to be expanded and further coordinated with other available support services for chronic disorders and birth defects on a national level. These changes come slowly, but emphasizing further dissemination of information will, we hope, increase the rate of change.

The Financial Management of Genetic Services  
by Patsy McAteer, Health Department Nurse Consultant

Speaking at a 1987 national conference entitled "The Challenge to Provide Genetics Services," Dr. Robert Greenstein reported on a study which surveyed reimbursement for genetic services. He remarked that "genetic services have tended to be delivered to those people who have the greatest ability to pay, and have the educational background and awareness to know that they want those services." Unfortunately, this is as true today as it was five years ago.

Why have we not made more progress in providing genetic services to those individuals and families who have or are at risk for having genetic diseases? The barriers are largely financial. Genetic services are labor intensive and require the participation of a team of health professionals - counselors, nurses, social workers and laboratory technicians, in addition to the medical geneticist. The billing system used by most insurance companies does not include codes for genetic services.

Until CPT codes are revised to include genetic evaluation and counseling in addition to diagnostic procedures, insurance companies and other third party payers will deny genetic service claims. In approaching third-party payers for recognition of genetic services, data on medical necessity, community standards of practice, efficacy and cost-benefit are essential. Few such data have been gathered.

Webmaster's note: This situation has improved somewhat since this 1992 publication

Statistical information is necessary to document the prevalence of diseases and to receive adequate funding for health programs. The 1989 Health and Human Services report of the National Commission on Orphan Diseases estimates that 20 million Americans suffer from approximately 5,000 rare genetic diseases. Yet there is no federal level mandate for reporting genetic diseases and few states require the reporting of these conditions.

The World Health Classification of Diseases (ICD) does not provide for collecting data on specific genetic diseases. Categoric assignments are broad and group many syndromes under the same numerical assignment, thus losing valuable information on specific genetic diseases. Several states have begun to collect data implementing a Birth Defect / Children with Special Needs Registries in order to document the incidence and prevalence of genetic disease. The Council of Regional Networks for Genetic Services (CORN) is currently conducting a survey to ascertain statewide resources for genetic services. The Centers for Disease Control are developing statistical models for generating comprehensive reports on genetic disorders.

Health insurance is considered a basic benefit by most workers. In todays health insurance market, benefits are largely controlled by the customer - employers who are purchasing health benefits for their employees and by large groups looking for the best buy for their health care dollar. Group plans far outnumber individual insurance plans. Employers tend to choose the least expensive package which covers essential services.

Genetic services are often considered superfluous, applicable only to a few group members and therefore, not a covered benefit. Health Maintenance Organizations tend to provide only those specialty medical services available within their own staff and rarely employ a medical geneticist or counselor. Laboratory and procedural services generally fare better in the acceptance process of private insurance companies and HMOs. Not all workers, however, have a health insurance plan. A recent Harris Poll reported that over 15% of the population are without any health care benefits. These individuals and families must rely on publicly funded programs to receive genetic services.

The National Genetic Disease Act was passed in 1976. The major provisions of the law were for:

1. the "establishment and operation of voluntary genetic testing and counseling programs primarily in conjunction with existing health programs including those assisted under Title V of the Social Security Act; and
2. the development of information and educational materials relating to genetic disease and dissemination of this information and materials to health care providers, medical students, teachers and the general public."

In 1978, $4 million was appropriated for implementation of this Act. This amount was to be increased yearly until it reached $20 million/year. Funds were to be made available for establishment of state or area-wide genetic programs that would incorporate and strengthen existing service and education resources, which then could be extended into a national coordinated system.

The Omnibus Reconciliation Act of 1981 replaced the National Genetic Disease Act, significantly reducing the funding for the expansion of genetic centers and the training of medical geneticists, counselors, nurses and social workers. Genetic services funding was cut by 47% to $6.9 million. Training centers were forced to draw upon their own internal resources to support fellowships and genetic training programs, consequently the number of such programs has been seriously curtailed.

Interestingly, $3 billion has been allocated to the Human Genome Project. In a TIME magazine feature article the goal of the project was defined as the mapping of the human genome; "Full translation of the genetic message would enable medical researchers to identify the causes of thousands of still mysterious inherited disorders, both physical and behavioral." Victories in the research laboratory can only save lives when funding is available to translate findings into practice so that treatment and prevention exist. Ironically, less than 0.001% (3 million) of this money was allocated to provide training or direct services.

As medical technology advances, children with more involved birth defects are living to adulthood. Birth defects do not vanish with the onset of adulthood, yet the medical support system does. Medical care for these youngsters has been provided by pediatric specialists. When they reach adolescence and young adulthood, this care should be transferred to clinicians specializing in adult medicine.

The adult medical specialist, however, is often uncomfortable with either treating the condition or the adolescent. Financing health care for the young adult can be very difficult. They are often no longer covered by their parent's health plan. Seeking employment may mean relinquishing SSI/Medicaid benefits and employers health plans often will not cover them because of a preexisting condition. High risk insurance pools are not viable alternatives because of the cost of the premiums. Many young people go without care or remain unemployed, relying on public assistance programs for support.

These barriers are not insurmountable. Accessibility to genetic services can be improved if coalitions of health care providers, affected individuals and families, and policy makers would each contribute their unique expertise in addressing the identified problems.

Economic and insurance considerations can be met by

1. revising CPT codes to adequately reflect the labor-intensive activities performed by genetics professionals;
2. supporting the current initiative to revise physician payment by means of a resource-based relative value scale;
3. investigating mechanisms for enabling nonphysician providers of genetic services (counselors, nurses, social workers to be reimbursed;
4. encouraging Genetic Centers to provide assistance to their clients in identifying funding resources for their care. ICD codes must be revised for hereditary conditions.

The National Genetic Disease Act should be reenacted and funded to the extent that was originally intended. This would provide the financial support to public clinics and to institutions who train health professionals in the delivery of genetic services.

Medical professionals dealing with children with special needs must network when transition is being made to adult services. State and national health departments must recognize that birth defects do not end at age 21; and they must facilitate continued care of the adult with birth defects. Legislative action must be taken at the state level to make affordable medical coverage available. Medicaid buy-in programs based on a sliding salary scale should be implemented to provide coverage for entry level and minimum salaried employees.

Families and individuals who have received effective genetic services are the strongest supporters of this benefit. Parents of children with special health needs, and children and adults with disabilities, should have input in every phase of delivery of services, including client conferences and policy formation. Parent support groups must educate their members so that their political effectiveness increases as they continue to provide personal testimony and expert documentation to legislatures and insurance companies regarding the need for and the effectiveness of genetic services.

References

Greenstein, Robert M. and Gale B. Gardiner, "Assessment of Reimbursement for Genetic Diseases" in The Challenge to Provide Genetic Services, Conference Proceedings, Boston, MA, 1987.

Genetic Services for Underserved Populations, Proceedings of a National Symposium, Birth Defects: Original Services, 1990:26 No.2.

The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Regional Genetic Services Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131

Parent Support Organizations for Genetic Disorders
Parents Perspectives
Barriers to Effective Genetics Services

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