Recommendations for genetic counselling related to genetic testing (Draft 2)

1. Introduction:

The main goal of the EuroGentest Network of Excellence is to improve the quality of genetic testing. As patients' understanding of the results and consequences of the test is an integral part of genetic testing, EuroGentest also aims at improving the quality of genetic counselling services associated with genetic testing, across Europe. One of the goals is to establish recommendations for genetic counselling in connection with different testing situations.

2. Method:

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 recommendations 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. The first draft of the guidelines was distributed to European clinical geneticists and genetic counsellors for comments and the present version was drafted taking these comments into consideration.

3. Background:

3.1. Analysis of European legislation related to genetic counselling

Article 12 of the European Convention on Human Rights and Biomedicine (Council of Europe, 1997) requires appropriate genetic counselling prior to predictive genetic testing (including carrier and susceptibility testing), but it has not yet been ratified by all Member States (http://conventions.coe.int/Treaty/Commun/ListeTraites.asp?MA=9&CM=7&CL=ENG). Most Member States as well as other European countries do not have specific legal provisions on genetic counselling. Exceptions include Austria, France, Germany, Norway, Portugal and Switzerland.

3.2. Analysis of international recommendations

Analysis of the international guidelines and policies related to genetic counselling identified several issues that were consistently cited as important. The most commonly mentioned were (1) appropriate training for the counsellors, (2) content of the information, (3) counselees understanding of the information, (4) psychological support, (5) problems related to disclosure to the relatives, (6) need for consent, (7) autonomy, (8) confidentiality, and (9) fear of discrimination.

3.3. Analysis of opinions among European Human Genetic Societies

A survey on legislation, guidelines and generally applied practices in genetic counselling performed among the human genetic societies of 38 European countries, in 2005-2006, found that there is no legislation directly 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 that legislation. Only six countries have neither legislation nor guidelines. About half of the respondents considered that more regulation would be needed, but 10 respondents considered the existing national or international guidelines to be sufficient.

4. Definitions

This paper defines genetic counselling as follows:

The “appropriately trained person” that gives the genetic counselling is usually a genetic health care professional (clinical/medical geneticist, genetic counsellor or genetic nurse). In some situations, he or she can be another professional trained for a specific genetic counselling task, such as an obstetrician in the case of pre-test counselling for risk of aneuploidy due to increased maternal age.

The term genetic test is used mainly for tests performed in genetic testing laboratories (cytogenetics, molecular genetics and biochemical genetics) as part of genetic services, but it realizes that the same need for genetic counselling may exist when analysing other elements that may disclose equivalent genetic information (histological, imaging, family history, etc).

5. Different types of genetic testing situations and need for genetic counselling

The following chapters 5.1.-5.7. briefly present the need for pre- and post-test genetic counselling in different testing situations; however, depending on the context, the disease being tested and the implications for the individual and his or her relatives, there may be different needs. This paper focuses on the average situations, but realizes that there may be exceptions in each category.

5.1. Diagnostic 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, except for its possible implications for relatives. Pre-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 patient and the relatives will need genetic counselling.

5.2. Presymptomatic testing means genetic testing in a healthy high-risk family member for a lateronset monogenic disorder, including high risk familial cancers. Even if the family has already been counselled, further pre- and post-test genetic counselling has to be offered, often accompanied by psychosocial evaluation and support.

5.3. Susceptibility testing means a genetic test that gives a mere 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 (sometimes referred to as risk profiling). Risk profiling for diseases of complex aetiology is only emerging. The validity and utility of these tests needs to be proven. At present, it seems very likely, that they will be prescribed mainly by specialists other than clinical geneticists; and the need for proper genetic counselling by a genetic specialist will depend on the possible implications of the results of the test for the person and his/her near relatives. The same applies to pharmacogenetic testing, which tests for a genetic susceptibility for adverse drug reactions or for the efficacy of a drug treatment with a given genotype.

5.4. Carrier testing means a genetic test that detects a gene mutation that will not have any consequence to the health of that individual; however, if inherited, alone (in case of X-linked inheritance, autosomal dominant premutation or chromosomal translocation) or in combination with another mutation in the same gene from the other parent (in case of autosomal recessive inheritance), it may confer a high risk of disease in the offspring. Pre- and post-test genetic counselling needs to be offered.

5.5. Prenatal testing means a genetic test (often chromosomal) performed during a pregnancy, where there is increased risk for a certain condition in the foetus. Pre- and post-test genetic counselling for the prospective parents needs to be offered.

5.6. Preimplantation genetic diagnosis (PGD) means testing the presence of a mutation or chromosomal change in one or two cells of an embryo in a family with a previously known risk for a Mendelian or chromosomal disorder in order to select the unaffected embryos to be implanted. 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 treatment in families with no known genetic risks. In case of PGS, reproductive counselling by assisted reproduction professionals is usually appropriate.

5.7. Genetic screening means testing where the target is not the high risk families, but the general population or a part of it (e.g. newborns, young adults, an ethnic group, etc.). All of the previously mentioned testing types can, in principle, be performed either in families at risk or as screening programs in different parts of the population. In screening programs, pre-test information and posttest information has to be an integral part of the program, though the extent to which it needs to be made and the professionals involved may vary. Those who are found to be in a high-risk group, as a result of screening, should then be offered genetic counselling.

6. General recommendations for genetic counselling

• Genetic counselling cannot be compulsory, no more than any other medical act. 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, presymptomatic tests for future severe illnesses with no options for treatment or prevention should never be performed without pre- and post-test genetic counselling, as well as psychosocial evaluation and follow-up.
• Genetic counselling has to be provided or supervised by a health-care professional appropriately trained for genetic counselling.
• Genetic counselling should be given in the individual's own language. When this is not possible, options like using an interpreter should be offered to the counsellee
• Before actual testing takes place, there should be free and informed consent. In situations, where testing children, or other persons who are not able to give informed consent, is considered, those individuals should be involved in genetic counselling and in the decision-making process, according to their capacities. Adequate authorisation for genetic testing of children or persons who are not able to give informed consent is required from their parents or legal representatives.
• The resources needed to perform genetic tests and to provide the appropriate pre- and post-test counselling should be developed and put in place simultaneously.

6.1. Pre-test genetic counselling

1. Pre-test genetic counselling has to inform the individuals what the test is for, include up-to-date, reliable description about symptoms and natural history of the disease, prospects of prevention or treatment, inheritance pattern, the risk of disease in the counsellee's situation, available reproductive choices, reliability and limitations of the test concerned, and possible psychological impact and other consequences of the test result to the counsellee and his/her family/relatives. Privacy and confidentiality of the results, as well as possible consequences related to its disclosure to third parties, such as insurance companies and employers, have to be discussed, when appropriate. The counsellor should not be coercive in any way; this principle should also be explained to the counsellee.
2. Possible uncertainties due to present lack of knowledge should be declared.
3. Pre-test counselling should include discussion about the free choice and the right not-to-know as well as issues related to confidentiality.
4. The discussion about the need to inform relatives about the test result, as well as the best ways to do this, should be initiated already in pre-test counselling.
5. Depending on the resources available, as well as the context and the disease being tested, a consultation with a psychologist and/or the possibility of further genetic counselling sessions should be offered. The possibility to contact a social worker and patient organisations should also be offered, where applicable.
6. Written materials and/or reliable Internet addresses related to the subject should be offered when available.
7. The counsellor should offer assistance in decision making, and encourage the counsellee to take ample time for it, whenever possible.
8. A written summary of the discussion should be prepared, if the counsellee so wishes.

6.2. Post-test genetic counselling

1. Points a) and b) from pre-test genetic counselling may have to be repeated.
2. A plan to inform relatives has to be agreed with the counsellee (or, if necessary, a decision to discuss this further, after a time to reflect).
3. Implications to the individual (including a follow-up plan, when relevant) and his/her near relatives should be discussed.
4. Depending on the resources available, as well as the context and the disease being tested, a consultation with a psychologist and/or follow-up contacts with the genetic counselling unit should be offered. The possibility to contact a social worker and patient organisations should also be offered.
5. A 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 may be offered.

6.3. Information/counselling in screening programs

When a genetic test is offered whithin a genetic screening program to the general population, the situation is very different from that of genetic testing in at-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 being tested.

For these reasons, it is extremely important to inform the public properly about the condition to be screened for, and the issues related to the screening program, including testing methods and their reliability, the implications of both “positive” and “negative” test results to the individual and his/her near relatives, the need for a confirmatory test, 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 made available for those who feel a need for it.

Communication with the population or population groups and individuals to whom screening is offered may be performed by health care professionals, other than clinical geneticists/genetic counsellors/genetic nurses, provided that the professionals involved are appropriately trained and educated for the screening programme. This should be performed or supervised by a clinical geneticist, whenever possible.

If the resources do not allow for such comprehensive and well planned pre-screening information, the screening program should not be implemented at all (with rare exceptions confining unquestioned health benefits to the individuals being screened, e.g. newborn screening for PKU).

Ackowledgements

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

EuroGentest Unit 3

Helena Kääriäinen, Marja Hietala, Ulf Kristoffersson, Irma Nippert, Elina Rantanen, Jorge Sequeiros, Joerg Schmidtke Contact: Helena Kääriäinen, E-mail: firstname.surname@ktl.fi