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Advocacy in Genetics: A Teaching Guide and Workbook
An Individual Legal Advocacy
Story and Plan
Supplemental Information
Guidelines for Genetics Services Delivery is a brochure created and produced by the Mountain States Genetics Network to fill the growing need to educate the public on an issue that is becoming a large part of their medical world in the 21st century. In an effort to aid the education of Advocates, we have included the Guidelines with the Advocacy Manual because it is an integral part of the issues raised in Advocacy. To further your understanding of Genetics issues we have also included the Genetics Glossary used in the medical genetics and scientific community.
Guidelines for Genetics Services Delivery
As a result of research in medical genetics, there will be dramatic changes in the practice of medicine, in how we think about health and disease, and in the number of people who need genetic services. Genetics clinics are already experiencing the increased patient load. In order to maintain quality services, it is important to define a quality program. This document spells out guidelines for the many dimensions of genetic services - from the population served to the necessary system requirements.
Genetics services should always include clear and complete communications with the family regarding all findings and results of any evaluations. This may include any or all of the following:
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individual or family sessions with the geneticist or genetic counselor, repeated as appropriate,
copies of evaluation and/or study results, and
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a letter summarizing what was said during the counseling session.
Genetics services should be sensitive to the language, culture, and beliefs of the families seen in the clinics. When necessary, medical translators should be present. Written information should be presented in terms that are understandable to the family and translated into the family's primary language if it is not English. As with all medical care, families must be assured that the results of all laboratory tests and any information they provide will be kept confidential. As appropriate, family members or guardians should be involved in decisions regarding care and treatment.
Written reports should also be sent to the referring physician and/or agency.
A. Population Served
Genetics services should be available to those who are concerned that they or their children have, or may develop, a potentially hereditary condition. More specifically, services should be available to people who:
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Have a medical, psychological, or other condition that is genetic such as hemophilia, sickle cell anemia, or phenylketonuria,
have family members who have similar conditions,
have a child with a birth defect, learning disability, medical disorder, or other conditions that may have a genetic basis,
are expecting a child and have been exposed to a teratogen (such as alcohol, tobacco, infections, medications, chemicals, or radiation) that could harm the child,
have had two or more stillbirths, or miscarriages,
are infertile,
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are expecting a child and are at increased risk for problems because the mother is over age 35 or has a chronic health condition (such as diabetes), or are at risk for developing a serious medical condition that may 'run in the family' such as heart disease, high blood pressure, mental illness, cancer, or diabetes.
Thus, people who seek genetic services do not necessarily have a genetic condition nor have to be 'sick'. However, they or their children may be at risk for developing a medical disorder.
B. Availability Of Services and Accessibility
Genetics services should be community-based. In each community there should be health care workers who have been trained to screen for genetic disorders and complete preliminary examinations. If the community is too small to support such a person, regional clinics that are staffed by certified personnel should be offered on a regular basis.
When necessary, families should receive assistance with transportation arrangements to a genetics center. At the minimum, a family should be offered assistance in using public transportation or in taking advantage of special services that are available within the community. When travel distances are great, teleconferencing should be an option if a face-to-face meeting is not required.
C. Clinical Requirements
While most medical visits focus on a specific medical concern of a person, a genetics consultation is often much more encompassing and time-consuming in that it may include any or all of the following:
Medical history / background information
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a review of all appropriate medical records, psychological evaluations, laboratory reports, and radiographs (such as x-ray and ultrasound films),
a family history and a pedigree (a family tree that is used for medical purposes),
a prenatal history that includes possible exposures to substances that may harm a fetus and a description of any problems during the pregnancy, as well as standard information such as length of the pregnancy, maternal weight gain, fetal position and activity,
postnatal history (a description of how the mother and infant did immediately after delivery and during the first few months of life),
a history of growth and the attainment of developmental milestones,
a review of school performance,
a history of behavioral problems, and
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other medical history regarding hospitalizations, surgeries, and major illnesses.
Laboratory tests and physical exam
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a complete physical examination including a head-to-toe exam for features that are not symmetrical or are variations of normal, and
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laboratory studies as appropriate.
Counseling and education
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a diagnosis (or a discussion of several possible diagnoses) and a treatment plan,
a discussion of the possible types of therapy, long-term significance, and/or risks to other family members and/or to future pregnancies,
referral to other specialists who can help manage particular disorders,
a discussion of concerns the individual/family might have regarding financing for medical services, anxiety around a diagnosis, or other coping issues,
assistance in making decisions in a non-directive fashion,
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referral to appropriate support services and family support groups, and on-going follow up.
Specific Situations
While the above requirements apply to all genetics evaluation sessions, some services are more appropriate under specific situations. These are described below.
Pregnancies
Genetics services involving pregnancies may also require:
Counseling
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explaining benefits, limitations, and risks of prenatal diagnostic tests,
discussing pregnancy options,
identifying and discussing exposures to environmental agents (such as radiation, medications, infections, and chemicals) that may harm the fetus, and
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arranging for delivery at a medical center equipped to deal with potentially serious medical problems.
Screening and diagnostic procedures
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drawing blood from the mother to screen for specific conditions (such as defects of the spinal column or conditions that occur more frequently in particular ethnic groups),
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doing an ultrasound to look for specific problems, and/or performing prenatal diagnostic tests (amniocentesis, CVS).
The parent(s) has (have) the right to decide how to follow-up on the results of any evaluation; this includes the right to carry a fetus with a genetic disorder to term or to terminate the pregnancy.
Newborns
Genetics services involving a newborn or a very young child may also require:
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screening the newborn for a genetic condition such as PKU (phenylketonuria),
complete autopsy or laboratory analysis of tissues from a placenta, miscarried fetus, or stillborn infant, and/or
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evaluation to detect problems involving the brain and/or others parts of the nervous system.
Young Children
Genetics services involving a child may also require:
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referral for a developmental evaluation, and/or
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management of health conditions that are age specific.
Adolescents and Adults
Genetics services involving adolescents and adults often require:
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a discussion of reproductive risks,
referral for assistance with medical, psychological, vocational, or social problems,
management of health conditions that are age specific,
screening to determine if a person is a carrier of a genetic disorder,
presymptomatic testing to determine whether or not a person is at-risk for developing a particular condition (in general, testing is more specific than screening), and/or
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counseling to help cope with the disorder or the risk of developing a disorder.
D. Follow-up Requirements
As a result of genetics services, the family may be referred elsewhere for management of the genetic condition. For example, the family may need access to:
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primary medical care in a health clinic or with a private physician,
specialty care as needed for treatment,
psychological and/or supportive counseling,
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various therapies to assure optimal level of function, and on-going health education.
Agencies and/or programs that can facilitate the provision of services (initial as well as follow-up) include the following:
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a newborn screening program
a birth defects registry
Early Intervention Programs (Public Law XX-XXX, part C of IDEA)
Title V for Children with Special Health Care Needs
EPSDT (Early Periodic Screening, Diagnosis, and Treatment) for persons who are Medicaid eligible
schools with personnel who can assist children who have special needs
child development clinics
public health agencies
support and advocacy groups
adoption agencies (for providing health information about the birth family to authorized individuals)
primary health care providers and
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other programs that may be specific to a particular state or region
E. Genetics Services Providers / Personnel Requirements
Clinics and facilities that provide genetics services should have a physician and counselor who are certified by, or have Active Candidate Status with, the American Board of Medical Genetics and/or the American Board of Genetic Counseling. In addition, they should have formal working relationships with:
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other physicians, genetic counselors, and health care professionals,
subspecialists in medical genetics, clinical cytogenetics, teratology, biochemical genetics, cancer genetics, and molecular genetics, registered nurses, medical social workers, registered dieticians, and other health professionals, and
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laboratories that participate in nationally approved quality assurance programs.
F. Nongeneticist Health Care Providers
In order for any genetics services delivery system to work, it is essential to have the participation of nongeneticist health care providers who:
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make appropriate referrals,
provide follow-up and treatment as part of primary care or in a specialty clinic,
maintain communication with the geneticists to assure appropriate management of the genetic condition, and
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assist the family in understanding the genetic nature of the condition.
G. The System Requirements
In addition to the requirements discussed above, other elements must be in place in order to provide families and individuals (including children) with quality genetics services. These include:
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a genetics network that includes teaching facilities, accredited laboratories, health care providers working in a variety of settings (in private practice, associated with academic medical centers, and with health care groups, not-for-profit/ for-profit),
a computerized system that can be used for making a diagnosis, coordinating patient care, finding resources, tracking patterns of occurrence, etc.
a system that protects individual choices regarding reproductive options,
procedures that do not allow discrimination on the basis of a genetic condition,
legislation that enables health care providers to administer genetic programs such as newborn screening,
ways to identify individuals and families who could benefit from genetics services including birth defect registries, community clinics, and health care providers (such as private obstetricians, pediatricians, family practitioners, and public health nurses),
access to a library system that can provide general as well as technical information to families and health professionals,
a tracking system to locate individuals who require follow-up services and/or who are at risk for genetic disorders (repeat genetics evaluations may be recommended as new information or questions arise; a registry assists in identifying families who need to be contacted),
an education system that will provide appropriate information about genetics to people at all levels - professional (undergraduate, graduate and continuing education) patient/family, and general population and public schools, and
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advisory groups that include individuals with genetic disorders, parents who have children with genetic conditions, and health professionals.
H. Confidentiality and Ethical Issues
The information that can be learned from genetic testing and family histories is unique in that it can affect family dynamics and has broad implications for future generations. Therefore, genetics services must protect an individual's privacy and autonomy. The utmost care must be taken to protect against the use of genetic information by unanticipated third parties and the possible consequences of such occurrence must be discussed with the families. 1
I. Cost Coverage / Funding
Genetics services should be available to everyone, regardless of income. These services, including those provided by certified counselors, should be covered by all health care, third-party payers including:
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private insurance,
state and federally funded health insurance/plans,
managed care and other pre-paid health insurance programs
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self-funded insurance plans. 2
When necessary, services should be available on a sliding fee scale.
In Conclusion
Genetics is an ever-changing science. New genetics findings addressing existing and new diagnoses occur daily. The impact of these increasing numbers of studies on health care providers and families is overwhelming. Genetics impacts the health and lives of all individuals in different ways at different times. Genetic information must be provided with the utmost care and sensitivity to the families served by health care providers. This guide has been developed to assist families in understanding the essential elements of genetic services.
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