Summary of the guidelines for genetic counselling

Within the WP 3.1, a list of international and European non-national guidelines and policies related to genetic counselling has been collected. In addition, some relevant national documents as well as documents from other continents have been taken into account. We welcome further information on guidelines that deal with genetic counselling.
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Contact persons

Professor Helena Kääriäinen
Research assistant Elina Rantanen
Senior researcher Marja Hietala

Department of Medical Genetics
University of Turku
E-mail: firstname.surname@utu.fi (ä => a)

Background

Progress in life sciences has raised concerns about the social, cultural, legal and ethical implications of the on-going development. Since the 1970s, the field of bioethics has grown considerably. The necessity of setting universal ethical guidelines for genetic services has been expressed in the past few years by scientists and practitioners themselves and by lawmakers and citizens. In addition, health professionals in the field find many practical situations so complicated that they have recognised the need for professional best-practice guidelines. Genetic counselling is the main topic of only a few policy papers, but it is included in the various recommendations concerning genetic services. Even if counselling is not mentioned explicitly, it is pointed out when talking e.g. about information, decision-making and patient’s rights.

Policy papers

Bodies that have produced policies on genetic services can be divided into four categories: political institutions, professional organisations, ethical boards and patient associations. The policy documents can be broadly divided into two groups: there are official ratified policy papers and reports that serve as background material. There are altogether 56 documents listed on this website that deal with genetic counselling. The documents are produced by these bodies:

  • International institutions (UNESCO, WHO, OECD)
  • European institutions (Council of Europe, European Commission, European Parliament)
  • International professional organisations (WMA, HUGO, FIGO, ISONG)
  • European professional organisations (ESHG, ESHRE, EuropaBio)
  • Professional organisations from other continents (ASHG, NSGC, AGS, SSO, ASCO, AAP, HGSA)
  • Ethical Boards (Nuffield, Conference of European Churches, President’s Commission)
  • Patient associations (EURORDIS, GIG, IHA, DPI)

* Abbreviations

The list of the documents is at the end of the website

Summary of the guidelines for genetic counselling

Even though the documents differ from each other, there are certain issues that are mentioned in most of them. These formulate the mainstream discourse of the counselling guidelines. In the guidelines genetic counselling is seen as a unique process of providing very special information. The conception of the speciality of genetic information defines the practices of ideal counselling: it is expected to give people the best possible capabilities to live with and act upon their genetic information. The key concepts play particularly important role in the documents that deal explicitly with the counselling. There are also papers where these issues are not covered, as they concentrate more on the particular issues of counselling. The topics and their content are summarized in the table below.

Subject Summary of content
PERSONS INVOLVED IN COUNSELLING
Counsellor  
Profession Person who gives genetic counselling should be a professional specialist, as he needs to convey complex information. In common problems there is a growing need for non-physician healthcare providers and non-genetic specialist MD's to give genetic counselling. More education in genetics is needed.
Training Genetic counsellors should receive appropriate and on-going training in genetic conditions, risk assessment, psychosocial issues, bioethics, service system, communication and patient perspective.
Co-operation within healthcare system Genetic counselling team consists of a team of professionals.
Duties Genetic counsellor has certain duties that include e.g. preparing for consultation, promoting public education, assisting in decisionmaking and being aware of the professional ethics.
Family  
Common information Genetic information is common to the whole family, which can cause conflicts. Counselling should be available to at-risk relatives. It should be considered before the test how they are contacted. Patients have a duty to contact their at-risk relatives, but this should not be a condition for test, as sometimes they have good reasons not to. Disclosure should be agreed between the patient and the physician.
Cultural issues When providing information, family's cultural and ethnic background should be taken into account.
Vulnerable patients  
Not able to consent Tests should be done in the best interest of the patients that cannot give informed consent, or sometimes in the health interest of their family. Authorisation of the representative is required, but the persons need to participate according to their capacity.
Children Tests should be done in the best interest of the child, or sometimes in the health interest of their family. Authorisation of parents is required, but the child needs to participate according to his capacity. The age at which the child is able to decide on testing should be flexible, and the older the child is, the more significance should be put on his assent. Information should be appropriate to child's capacity and needs, and the child should be involved in counselling as much as possible.
Public  
PRACTICES OF COUNSELLING
Setting Genetic counselling should be given in a private and comfortable place.
When to counsel  
Pre-test Pre-test counselling should be available.
Post-test Post-test counselling should be available.
Discussion before counselling It is recommended to discuss with patients before counselling to identify their needs, to increase their understanding of counselling and to gather background information.
Periods There should be enough of time between counselling and decision-making. The waiting time should however not be too long, at least the test results should be disclosed as soon as possible. Patient should be informed about the time between the appointments.
Consent Informed consent should be asked always. According to the situation, it should be either in written or verbal form, written form is often advisable. There should be a free withdrawal from the consent. Consent needs to be asked also to inform the relatives.
Psychological support Psychological support should be given to patients when necessary to adjust them to the situation, to help them to cope with stress and to assure their individual decision-making. Patient's psychological, emotional and social responses need to be taken into account. Sometimes it can be recommended to take a support person to the appointment.
Referrals Referrals can be made to other professionals when necessary. Reason for a referral can be e.g. support, treatment or ethical reasons.
Follow-up Effective systems for follow-up are needed.
Counselling integral part of testing Counselling is integral part of genetic testing and more links between laboratories and clinical services are needed.
INFORMATION-GIVING
Content of information Information should consist of medical facts of the disorder, risk figures, benefits and harms of testing, limitations of the test, reliability of the test, implications of testing, familial implications, probabilities of inheritance, prevention and treatment, information on available support and alternative choices.
What kind of information Information should be appropriate, balanced, honest, objective, full, sufficient, accurate, age-appropriate and based on up-to-date knowledge.
Understanding Patient's understanding needs to be assured. Clear language should be used and interpreters invited when needed. Written summary of information is advisable.
Ways to give information It is sometimes useful to use alternative ways to distribute information, such as leaflets, videos and visual presentation.
Test type-based information-giving  
Predictive test Appropriate counselling should be given. It should include advantages and disadvantages of knowing the result, psychological and social issues, complex appearance of the disease and difficulties to quantify probabilities, possibilities to treatment and planning of life.
Prenatal test Appropriate counselling should be given. Options, limitations and risks of test should be discussed. Psychological aspects need to be taken into account. Medical facts and child's future should be discussed.
Preimplantation test Appropriate counselling should be given.
Carrier test Appropriate counselling should be given and reproductive options discussed.
VALUES
Non-directiveness Non-directiveness needs to be ascertained to the patient. It does not mean abandoning patient, but personal conviction of the counsellor should not be involved. Non-directiveness is however difficult in practice and it needs to be considered case-specifically.
Autonomy Gene test should always be voluntary, only in rare cases can compulsory testing be accepted. Counselling needs to respect individual's values and culture. No pressure should be put on the counsellee and every decision should be equally accepted. Independent decision-making should be encouraged, but counsellor can assist the patient.
Confidentiality Confidentiality needs to be ascertained to the patient. Patient's private information needs to be protected from third parties. In the situations that non-disclosure would cause severe harm, confidentiality can be breached.
Right to know and to not know Right to know and to not know genetic information are both important, but sometimes, if it is in the patient's interest, the right to know overweighs the right not to know.
Well-being In counselling patient needs to be taken care of. Good should always overweigh harm.
Equal access Everyone should have equal access to genetic testing and counselling.
Individual's interests Interests of individual should prevail the interests of the society.
PROBLEMS
Practical problems Varying practices related to genetic testing and counselling is a problem, as the services should be equal for everyone. Lack of trained professionals, inaccuracy of test results, risks involved in testing and costs of counselling are also problems to be solved.
Ethical problems  
Discrimination There is a chance that there will be discrimination on basis of genes in the society. Testing can also stigmatize on basis of one's ethnic origins. Testing for sex-selection should not be allowed in order to avoid discrimination on basis of sex. Testing creates attitudes towards disabled people, and in counselling the quality of disabled people's lives is often defined without their contribution. Eugenics needs to be seen as a threat; a rich society includes all kinds of people.
Conflict between values There is often conflict between confidentiality and duty to warn and provide care and between the right to know and the right to not know. These need to be handled sensitively.
Disclosure It is sometimes difficult to decide what information to disclose, e.g. unexpected findings and information not related to disease.
Society In genetic testing the beneficence of both the individual and the society needs to be thought. Increasing range of options that gene tests bring changes society. One of these options is commercial genetic testing in connection which proper counselling should be guaranteed.
Determinism The use of genetic information may lead to deterministic thinking, and science may be considered as godhead.
Cultural norms There are different cultural norms on health. Therefore dialogue is needed especially because of the cross-border patients.
RELATION TO OTHER HEALTHCARE
Genetic testing is different Genetic information differs from other health information because it has familial and generational implications, it is predictive and the emphasis is not on treatment, it is severe, private and complex and deals with special ethical dilemmas.
Exceptionalism is not good It is not good to think that genetic testing is too exceptional. This leads to deterministic thinking. Genetics should rather be integrated into mainstream healthcare.
FUTURE DEVELOPMENTS
Techniques increase Genetic testing techniques will increase and more guidelines will be needed.
Focus on risk Focus of testing will be more and more on risks of illnesses and the class of healthy ill will grow. This brings more choices and freedom but ethical dilemmas also need to be thought more carefully.
Professional practices Patient and physician's roles are changing and more interchange of information is needed. The role of counselling is increasing. Counselling needs to be evaluated and researched.
Healthcare and society Genetics will be integrated more into everyday healthcare and healthcare costs need to be reviewed. Differences between countries continue to exist, as value basis is always different in different cultures.

* Abbreviations:

UNESCO: United Nations Educational, Scientific and Cultural Organization
WHO: World Health Organization
OECD: Organisation for Economic Co-operation and Development
WMA: World Medical Association
HUGO: Human Genome Organisation
FIGO: International Federation of Gynecology and Obstetrics
ISONG: International Society of Nurses in Genetics
ESHG: European Society of Human Genetics
ESHRE: European Society of Human Reproduction and Embryology
EuropaBio: The European Association for Bioindustries
ASHG: American Society of Human Genetics
NSGC: National Society of Genetic Counselors
AGS: American Geriatrics Society
SSO: Society of Surgical Oncology
ASCO: American Society of Clinical Oncology
AAP: American Academy of Pediatrics
HGSA: Human Genetics Society of Australasia
Nuffield: Nuffield Council on Bioethics
EURORDIS: European Organisation for Rare Diseases
GIG: Genetic Interest Group
IHA: International Huntington Association
DPI: Disabled People’s International

List of policies and guidelines related to genetic counselling

International institutions

  1. UNESCO: Universal Declaration on the Human Genome and Human Rights, 1997
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  2. UNESCO: Preliminary Draft Declaration on Universal Norms on Bioethics, 2005
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  3. UNESCO: Report on Genetic Counselling by Michel Revel, 1995
    Download
  4. UNESCO: Report on Confidentiality and Genetic Data by the working group of IBC, 2000
    Download
  5. UNESCO: Report on Genetic Screening and Testing by David Shapiro, 1994
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  6. UNESCO: International Declaration on Human Genetic Data, 2003
    Download
  7. WHO: Statement of WHO Expert Advisory Group on Ethical Issues in Medical Genetics, 1998
    Download
  8. WHO: Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services, WHO Human Genetics Programme, 1998
    Download
  9. HO: Review of Ethical Issues in Medical Genetics. Report of Consultants to WHO, Professors Wertz, D.C., Fletcher, J.C. & Berg, K., 2000
    Download
  10. OECD Programme on Biotechnology: Genetic Testing – guidelines for millennium

European Institutions

  1. Council of Europe: Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine, 1997 + Explanatory report
    Web address: conventions.coe.int/Treaty/en/Treaties/Html/164.htm
  2. Council of Europe: Recommendation No. R(92) 3 of the Committee of Ministers to Member States on Genetic Testing and Screening for Health Care Purposes, 1992
    Web address: https://wcd.coe.int/com.instranet.InstraServlet?command=com.instranet.CmdBlobGet&InstranetImage=573883&SecMode=1&DocId=601492&Usage=2
  3. Council of Europe: Recommendation No. R(90) 13 of the Committee of Ministers to Member States on Prenatal Screening, Prenatal Genetic Diagnosis and Associated Genetic Counselling, 1990
    Web address: https://wcd.coe.int/com.instranet.InstraServlet?command=com.instranet.CmdBlobGet&InstranetImage=570583&SecMode=1&DocId=592250&Usage=2
  4. Council of Europe, Working Party on Human Genetics: Working document on the applications of genetics for health purposes, 2003 + explanatory note
    Web address
  5. Council of Europe, Steering Committee on Bioethics (CDBI): Working Party on Human Genetics Report, 1997
    Web address
  6. European Commission Joint Research Centre: Towards quality assurance and harmonisation of genetic testing services in the EU, report 2003
    Web address: http://www.jrc.es/home/pages/detail.cfm?prs=1124
  7. European Parliament Temporary Committee on Human Genetics and Other New Technologies in Modern Medicine: Report on the ethical, legal, economic and social implications of human genetics by Francesco Fiori, 2001
    Web address: www.europarl.eu.int/comparl/tempcom/genetics/final_report_en.htm
  8. European Commission: 25 recommendations on the ethical, legal and social implications of genetic testing by an expert group of European Commission, 2004
    Web address: europa.eu.int/comm/research/conferences/2004/genetic/pdf/recommendations_en.pdf
  9. European Commission European Group on Ethics in Science and New Technologies (EGE): Opinion No 6 Ethical Aspects of Prenatal Diagnosis, 1999
    Web address: ec.europa.eu/european_group_ethics/docs/opinion6_en.pdf

International professional organisations

  1. World Medical Association: Statement on genetic counselling and genetic engineering, 1987 and rescinded 2005
    Web address
  2. World Medical Association: Declaration of the human genome project, 1992 rescinded 2005
    Web address
  3. Human Genome Organisation: Statement on the Principled Conduct of Genetics Research. HUGO ethical, legal, and social issues committee report to HUGO Council, 1996
    Web address :
  4. International Federation of Gynecology and Obstetrics (FIGO): Recommendations on Ethical Issues in Obstetrics and Gynecology by the FIGO Committee for the Ethical Aspects of Human Reproduction and Women’s Health, 2003
    Web address: : www.ranzcog.edu.au/about/pdfs/FIGOethics-guidelines-text_2003.pdf
  5. International Society of Nurses in Genetics: Position Statement: Informed decision-making and consent. The role of nursing, 2000
    Web address: http://www.isong.org/about/ps_consent.cfm
  6. International Society of Nurses in Genetics: Position Statement: Privacy and confidentiality of genetic information: the role of the nurse, 2001
    Web address: http://www.isong.org/about/ps_privacy.cfm
  7. International Society of Nurses in Genetics: Position Statement: Genetic counselling for vulnerable populations. The role of nursing, 2002
    Web address: http://www.isong.org/about/ps_vulnerable.cfm

European professional organisations

  1. European Society of Human Genetics (ESHG): Provision of genetic services in Europe: current practices and issues policy, 2003
    Web address
  2. European Society of Human Genetics & European Society of Human Reproduction and Embryology: The Interface between Medically Assisted Reproduction and Genetics: Technical, Social, Ethical and Legal Issues, 2005
    Web address: http://www.eshre.eu/
  3. European Society of Human Reproduction and Embryology PGD Consortium: Best practice guidelines for clinical preimplantation genetic diagnosis and preimplantation genetic screening, 2004
    Web address: http://www.eshre.eu/
  4. The European Association for Bioindustries (EuropaBio): Human Medical Genetic Testing. A EuropaBio Position Paper, 2004
    Web address: www.europabio.org/articles/article_317_EN.doc

Professional organisations from other continents

  1. American Society of Human Genetics (ASHG): Ethical, Legal, and Psychological Implications of Genetic Testing in Children and Adolescents Report, 1995
  2. American Society of Human Genetics (ASHG): Paper on Professional Disclosure of Familial Genetic Information, 1998
  3. National Society of Genetic Counselors (USA): Code of Ethics
    Web address: http://www.nsgc.org/about/codeEthics.cfm
  4. National Society of Genetic Counselors (USA): Position Statements, 1991-2002
    Web address: http://www.nsgc.org/about/position.cfm
  5. National Society of Genetic Counselors: Genetic cancer risk assessment and counseling: Recommendations of the National Society of Genetic Counselors, 2004
    Web address: http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=5274&nbr=3601
  6. National Society of Genetic Counselors: Fabry disease in genetic counselling practice: Recommendations of the National Society of Genetic Counselors, 2002
    Web address: http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=3274&nbr=2500
  7. National Society of Genetic Counselors: Genetic counselling for fragile X syndrome: Recommendations of the National Society of Genetic Counselors, 2000
    Web address: http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=2546&nbr=1772
  8. National Society of Genetic Counselors: Genetic evaluation and counselling of couples with recurrent miscarriage: Recommendations of the National Society of Genetic Counselors, 2005
    Web address: hum-molgen.org/NewsGen/06-2005/msg39.html
  9. National Society of Genetic Counselors: Genetic counselling and screening of consanguineous couples and their offspring: Recommendations of the National Society of Genetic Counselors, 2002
    Web address: http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=3273&nbr=2499
  10. The American Geriatrics Society: Position Statement: Genetic Testing for Late-Onset Alzheimer’s Disease, 2000
    Web address: http://www.americangeriatrics.org/products/positionpapers/gen_test.shtml
  11. Society of Surgical Oncology: Statement on Genetic Testing for Cancer Susceptibility, 1999
    Web address: www.surgonc.org/uploadedFiles/Educational/Statement_on_Genetic_Testing_for_Cancer_Susceptibility_1999.pdf
  12. American Society of Clinical Oncology: Policy Statement Update: Genetic Testing for Cancer Susceptibility, 2003
    Web address: http://www.jco.org/cgi/content/abstract/JCO.2003.03.189v1?ck=nck
  13. American Academy of Pediatrics, Committee in Bioethics: Ethical Issues With Genetic Testing in Pediatrics, 2001
    Web address: aappolicy.aappublications.org/cgi/reprint/pediatrics;107/6/1451.pdf
  14. Human Genetic Society of Australasia (HGSA): Code of ethics, 2000
    Web address: www.hgsa.com.au
  15. Human Genetic Society of Australasia (HGSA): Guidelines for the practice of genetic counselling, 1999
    Web address: www.hgsa.com.au
  16. Human Genetic Society of Australasia (HGSA): DNA Presymptomatic and predictive testing for genetic disorders, 2002
    Web address: www.hgsa.com.au
  17. Human Genetic Society of Australasia (HGSA): Child testing policy
    Web address: www.hgsa.com.au

Ethical boards

  1. Nuffield Council on Bioethics: Genetic Screening – ethical issues, 1993
    Web address: www.nuffieldbioethics.org/fileLibrary/pdf/genetic_screening.pdf
  2. Conference of European Churches Commission for Church and Society, Working Group on Bioethics: Genetic Testing and Predictive Medicine, 2003
    Web address: www.cec-kek.org/English/BioethGeneticTesting.pdf
  3. President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research: Screening and Counseling for Genetic Conditions. A Report of the Ethical, Social, and Legal Implications of Genetic Screening, Counseling, and Education Programs, 1983
    Web address: www.bioethics.gov/reports/past_commissions/geneticscreening.pdf

Patient associations

  1. EURORDIS – European Organisation for Rare Diseases: Guidelines for organisations providing information on rare diseases, 2004
    Web address: www.eurordis.org/IMG/pdf/pard3_guidelines_leaflet.pdf
  2. Genetic Interest Group: Guidelines for genetic services, 1998
    Web address: www.gig.org.uk/docs/gig_guidelines.pdf
  3. Genetic Interest Group: Guidelines for confidentiality, 1998
    Web address: www.gig.org.uk/docs/gig_confidentiality.pdf
  4. International Huntington Association: Guidelines for the molecular genetics predictive test in HD, 1994
    Web address: http://www.huntington-assoc.com/
  5. Disabled People’s International Europe: Disabled People Speak on the New Genetics. DPI Europe Position Statement on Bioethics and Human Rights, 2000
    Web address: freespace.virgin.net/dpi.europe/downloads/bioethics-english.pdf
  6. Disabled People’s International Europe: Bioethics Declaration – The Right to Live and be Different, 2000
    Web address: www.johnnypops.demon.co.uk/bioethicsdeclaration/index.htm
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