Community Genetics Research Paper

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Community genetics is a set of activities at the interphase of medical genetics and community medicine aiming to maximize the number of people benefiting from medical genetics while at the same time minimizing potential harm (Ten Kate 1999).

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Clinical disciplines, including clinical genetics, are portrayed by the doctor waiting in his her office for (a call from) the patient with his complaints and worries. Community medicine, including community genetics, is characterized by an anticipatory, proactive attitude and the large numbers of individuals that are approached. The health care worker, who is worried about the people in the community, leaves his her office and searches for the people who are at risk, but do not know this yet, or do not know where to go with their worries.

While community medicine brings these characteristics to community genetics, medical genetics brings its expertise in genetics, but also its sensitiveness to ethical issues as respect for autonomy of the individual, beneficence, non-maleficence, and justice.

Although in the above definition the emphasis is on the application side of community genetics, the field has also a strong research side. Research is indispensable to find out what the community needs, and to evaluate the effects of the efforts to meet these needs. The following activities belong to the field of community genetics.

1. Genetic Screening

Genetic screening is the application of a test on people for the systematic early detection or exclusion of a hereditary disease or a heritable predisposition to a disease in the participant or in his or her children.

2. Genetic Education

Genetic illiteracy is widespread. How can people decide on participation in genetic screening programs, pre-pregnancy consultation, or clinical genetics services, if they do not understand the basic principles of genetics, and have misconceptions? There is thus a strong case for sharing basic genetic knowledge with the community (Jallinoja and Aro 2000). The general public should not be the only target, the professionals and policy makers also need to be considered. Apart from genetics, the education program should focus on the meaning of probabilities and on ethical aspects, in which respect for autonomy and solidarity should be stressed.

3. Pre-Pregnancy Consultation

Many clients for clinical genetics services are referred when they are pregnant, with problems that better could have been solved before pregnancy. Evaluating a family history, diagnostic work-up of consultants and family members, and consultation of other experts may take more time than the ongoing pregnancy allows. During pregnancy there are less options available for the pregnant woman and her partner, and decisions have to be taken in a short time. The options are not restricted to prenatal diagnosis, termination of pregnancy or continuation, but also include the possibility of refraining from pregnancy at all, and sometimes also pre-implantation genetic diagnosis, artificial insemination by donor, or egg-cell donation. Moreover, some preventive measures have to start before pregnancy. Folic acid supplementation for the prevention of neural tube defects such as spina bifida or anencephaly, for example, should be started at least four weeks before conception and continue for eight weeks after conception. Controlling maternal diabetes and choosing medications, if needed, that are the least harmful to the expected child, should also start before conception. The same applies to correcting dietary insufficiencies and refraining from smoking, alcohol and drug consumption. Even if there is no indication for increased risk pre-pregnancy counseling would give opportunities for education about risks of advanced parental age, or over consumption of vitamin A, and about prevention of, e.g., toxoplasmosis and neural tube defects. Notwithstanding all these advantages, a systematic offer of pre-pregnancy counseling to all couples who wish to have a child has nowhere been effectuated on a satisfying scale (Schrander-Stumpel 1999).

4. Genetics In Primary Care

Clinical genetics centers are scarce and have few resources to meet such needs as pre-pregnancy consultation for the whole population, or to answer all questions people might have about genetics. Pre-pregnancy consultation should be readily available in the neighborhood of the couples considering pregnancy. The same applies to answering genetic questions that might arise outside the reproductive setting. In developed countries, primary care is very accessible and is an obvious first line for handling these tasks. This is especially the case in countries were primary care is the gatekeeper to facilities, such as clinical genetics (Hayflick and Eiff 1998). With the discovery of hereditary cancer genes like BRCA1 and BRCA2, the number of questions to primary care physicians because of a family history of cancer, have increased markedly. However, there is a problem. The developments in the field of genetics are fast, and there are only a limited number of routine situations. Education of professionals about genetics alone will not be sufficient, since its content will soon be outdated. A solution is to exploit the possibilities of the Internet for the support of primary care.

5. Genetics For Disadvantaged People

The majority of people are not living in developed countries. For these people, the education of primary care physicians is not a solution. Other approaches are needed for these people. An example of one other approach is the genetic nursing system that has been developed in South Africa, where some remote hospitals, which generally have a serious lack of medical doctors, have at least one local nurse who has received some training in genetics (Christianson et al. 2000). These nurses, who have substantial contact with the local population, can recognize frequent disorders and perform genetic counseling. More difficult cases are presented to a hospital-visiting clinical geneticist.

Disadvantaged populations are not only living in the third world, but are present in developed countries as well. Groups of immigrants with a culture and language that is different from the resident population do not easily turn to clinical genetics services. Belief systems and social systems, religious and ethical convictions, traditions and usual practice are possible impediments. Special attention is needed for immigrants to also profit from genetic information (Penchaszadeh and Punales-Morejon 1998).

6. Access And Quality Of Clinical Genetics Services

Although clinical genetics can be clearly distinguished from community genetics, the presence of clinical facilities, their accessibility and their quality is a concern of community genetics (Harris and Reid 1997). Genetic education, genetic screening, pre-pregnancy consultation, genetics in primary care, and genetics for disadvantaged people all presuppose that there are answers to difficult questions and for genetic diagnosis which can be easily found.

7. Monitoring

Monitoring of the population with regard to genetic and congenital diseases, but also for unwanted potential side-effects of the use of medical genetics, e.g., insurance problems, is desirable. Monitoring can be done by continuous registration or periodic surveys. When timely detection of sudden changes in frequencies are of interest, continuous registration is preferable. Periodic surveys, however, in general are less expensive. A problem with registers of congenital anomalies is the relative rareness of many of the disorders. This limits the statistical power of individual registries. Power may increase by joining international networks, such as the European Registration of Congenital Anomalies (EUROCAT) or the Inter-national Clearinghouse of Birth Defect Registries (ICBDR) (Reefhuis et al. 1999).

8. Conclusion

Community genetics is a multidisciplinary field. It differs from clinical genetics by its community orientation. It is not population genetics or genetic epidemiology. Population genetics and genetic epidemiology serve to increase our understanding about the behavior of alleles in populations and the contribution of genes to disease. Both fields produce information that is extremely important for com-munity genetics. Community genetics applies this knowledge, together with the contributions from clinical genetics, psychology, sociology, educational experts, law, ethics, patient organizations (Kent 1999), and the community.

The term ‘community genetics’ is a new one, first mentioned in literature in the 1990s (Modell and Kuliev 1998). Separate community genetic activities, however, have a longer history. The term is useful since it gives a clear label for a coherent field within the universe of health care. It helps to delineate clinical genetics and it conveys a positive answer to those who express fear for eugenic tendencies and genetization. This answer is: ‘Yes, it is possible to apply genetics to the benefit of the community by serving the individuals in it, without intention to improve the gene pool or the health of future populations.’ This is one of the reasons why the name community genetics should be preferred above the term ‘public health genetics’ (Khoury et al. 2000). The other reason is that classical outcome measures in public health are uptake, compliance, and reproductive choices. Community genetics prefers to measure outcome in terms of improvement of autonomy, empowerment of people, perception of benefit, decrease of harm, and increase in justice.


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