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The main goal of the EuroGentest Network of Excellence is to improve the quality of genetic laboratory services. As patients' understanding of the results and consequences of the test is an integral part of genetic testing, EuroGentest also wants to improve the quality of genetic counselling services associated with genetic testing across Europe. One of the aims is to establish recommendations of the minimal criteria for genetic counselling in connection with different testing situations.
To achieve this, the group assigned by EuroGentest for this task (Unit 3 WP 3.1,) has collected and analyzed international and European non-national guidelines and policies related to genetic counselling, as well as some relevant national and other documents. Also, legislation related to genetic counselling in EU countries has been collected (www.eurogentest.org). Two workshops of experts on genetic counselling have been organized (May 2005, September 2006). In addition, data has been and is collected with the help of Surveys. Based on all this, these guidelines have been drafted and are distributed to European clinical geneticists and genetic counsellors for discussion and improvements.
Article 12 of the European Convention on Human Rights and Biomedicine (Council of Europe, 1997) requires appropriate genetic counselling prior to predictive genetic testing (incl. carrier and susceptibility testing), but it has not yet been ratified by all Member States. Most Member States as well as other European countries do not have specific legal provisions on genetic counselling. Exceptions include Austria, Germany, Portugal, Norway and Switzerland.
The analysis of the international guidelines and policies related to genetic counselling identified several issues that were consistently cited as important. Some of the most commonly mentioned were appropriate training for the counsellors, need for consent, content of the information, non-directiveness, autonomy and confidentiality, problems related to disclosure to the relatives, and fear of discrimination.
A survey on legislation, guidelines and generally applied practices in genetic counselling performed among Human genetic societies of 38 European countries in 2005-2006 found that there is no direct legislation related to genetic counselling in the great majority of these countries. There are, however, some professional guidelines related to counselling in some of the countries that do not have legislation. Only six countries have neither legislation nor guidelines. Most of the respondents considered that more regulation would be needed but 10 respondents considered the existing international guidelines sufficient. The great majority of the respondents felt that genetic counselling was well organized in their country.
This paper defines genetic counselling as follows:
The term "genetic test" is used mainly for tests performed in genetic testing laboratories (cytogenetic, molecular genetic and biochemical) as part of genetic services but it realizes that same need for genetic counselling may exist when analysing other elements that may give equivalent information (histological, X-ray etc).
5.1. Diagnostic genetic testing means a genetic test performed in a symptomatic individual to diagnose or rule out a genetic condition. This is not, in principle, very different from other medical tests performed in order to achieve a diagnosis. Pre- and post-test genetic counselling may not be necessary. As in case of any medical test, there should be free and informed consent which includes pre-test information, minimally what the test is for and what are its implications for the tested and for the family. If the test result is positive, the family may need genetic counselling (unrelated to taking the test).
5.2. Prenatal genetic testing means a genetic test (often chromosomal) performed in a pregnancy where there is increased risk for a certain condition. Pre- and post-test genetic counselling for the prospective parents has to be offered.
5.3. Preimplantation genetic testing means testing the presence of a mutation or chromosomal change in one cell of an embryo in a family with a previously known risk situation in order to make a preimplantation genetic diagnosis (PGD). The aim is to find unaffected embryos for implantation. Pre- and post-test genetic counselling for the prospective parents has to be offered. This should be differentiated from preimplantation genetic screening (PGS) which aims at improved results of infertility test in families with no known genetic risks. In case of PGS, reproductive counselling by appropriate professionals is sufficient.
5.4. Predictive genetic testing means genetic testing in a healthy high-risk family member for a later-onset monogenic disorder or monogenic predisposition (e.g. familial cancers). Even if the family has already been counselled, further pre- and post-test genetic counselling has to be offered.
5.5. Susceptibility genetic testing means a genetic test that gives an indication of an increased or decreased risk for a multifactorial condition. It may also mean simultaneous testing of several genetic markers which together give information of the risk. The risk profiling for multifactorial diseases is only emerging and the use and utility of such tests remains to be seen. At present it seems likely, that they will be prescribed by other specialties than clinical geneticists, and genetic counselling will not be necessary. The same applies to pharmacogenetic tests. It should be noted that this recommendation about susceptibility testing disagrees with the European Convention on Human Rights and Biomedicine (Council of Europe, 1997).
5.5. Genetic carrier testing means a genetic test that detects carriers of a gene mutation that is not known to have any consequence to the health of the carrier. However, if inherited, alone (in case of X-linked inheritance, autosomal dominant premutation or chromosomal translocation) or in combination with a mutation in the same gene from the other parent (in case of autosomal recessive inheritance), it may confer a risk of disease on the offspring. Pre- and post-test genetic counselling has to be offered.
5.6. Genetic screening means testing where the target population is not the high risk families but (part of) the general population (e.g. newborns, young adults etc.). All of the previously mentioned testing types can, in principle, be performed either in risk families or as screening programs in different parts of population. In screening programs, pre-test information and post-test information has to be an integral part of the screening program. Those who are found to be in a high risk group as a result of screening should be offered genetic counselling.
- Genetic counselling no more than any other medical act can be compulsory. It should, however, be offered and strongly recommended in the testing situations mentioned above. If an individual insists on having a test without genetic counselling, the medical facts and possible consequences should be briefly discussed by the clinician ordering the test. According to good clinical practice, predictive tests for future severe illnesses with no options for treatment or prevention should never be performed without prior genetic counselling.
- Genetic counselling has to be given or supervised by a health care professional appropriately trained for genetic counselling.
- Whenever possible, genetic counselling should be given in the individual's own language or an interpreter should be used.
- In situations, where testing children or persons who are not able to give informed consent is considered, these individuals should be involved in genetic counselling and decision making as much as possible according to their capacity. Authorisation to genetic testing of children or persons who are not able to give informed consent is required from their parents or legal representatives.
- The resources to perform genetic tests and to provide appropriate pre- and post-test counselling should be developed simultaneously.
a) Pre-test genetic counselling has to tell what the test is for, include up-to-date, reliable information about the symptoms
and natural history of the disease, the inheritance, the prospects of prevention or treatment, the risk of disease in the
counsellee's situation, the reliability of the test concerned, and possible psychological and other consequences of the test
result to the counsellee and his/her family/relatives. Possible consequences related to third parties like insurance and
employment have to be discussed, when appropriate. The counsellor should not be coercive in any way; this principle should
also be explained to the counsellee.
b) Possible uncertainties due to present lack of knowledge have to be declared.
c) Pre-test counselling has to include discussion about the free choice/right not to know as well as issues related to
confidentiality.
d) The discussion about the need to inform relatives about the test result has to be initiated already in pre-test-counselling.
e) Depending on the resources, consultation with a psychologist/possibility to come to another genetic counselling session
should be offered. Possibility to contact a patient organisation should also be offered when applicable.
f) Written material and/or reliable Internet addresses related to the subject should be offered when available.
g) The counsellor should offer assistance in decision making, and encourage the counsellee to take ample time for it, when possible.
h) Written summary of the discussion should be prepared if the counsellee so wishes.
a) Points a) and b) from pre-test genetic counselling have to be repeated.
b) Plan to inform relatives has to be agreed with the counsellee (or if necessary: decision to discuss this further after a time
to reflect).
c) Implications to the individual (including a follow-up plan when relevant) and his/her children should be discussed.
d) Depending on the resources, consultation with a psychologist/follow-up contacts with the genetic counselling unit should be
offered. Possibility to contact a patient organisation should also be offered.
f) Written summary of the test result and issues discussed during the counselling should be, as a rule, given to the counsellee.
Also, written material to help the counsellee to spread the information in the family should be offered.
When a genetic test is offered in genetic screening programs to general population, the situation is very different when compared to genetic testing in risk families. Most importantly, the individuals in a screening program have not personally requested the test and they may not know anything about the condition.
For these reasons, it is extremely important to inform the public properly about the condition to be screened for and different issues related to the screening program, including the testing methods and their reliability, the implications of both positive and negative test results to the individual and his/her near relatives as well as the freedom of choosing to participate. This may be achieved using different methods, including media, leaflets, programs in schools etc. Individual pre-test genetic counselling is, as a rule, not possible to organize but should be available for those who feel that they need it.
The communication with the individuals to whom screening is offered can be performed by health care professionals other that clinical geneticists/genetic counsellors/genetic nurses provided that the professionals involved are appropriately trained and educated for the screening programme.
If the resources do not allow for such comprehensive and well planned pre-screening information, the screening program should not be implemented (with rare exceptions confining unquestioned health benefits to the individuals screened for, e.g. newborn screening for PKU).
In addition to EuroGentest Unit 3 leaders and researchers, we want to thank the Unit 3 Expert Group, especially Heather Skirton, Aad Tibben, Andrew Faucett, Luis Pérez Jurado, Gerry Evers-Kiebooms, Claire Julian-Reyner, Angus Clarke, Kris Dierickx, Michal Witt, Beverly Searle, Ron Zimmern and Shirley Hodgson
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