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Freedom of                                                                      HGC09/P26
Information Status


3. These circumstances are usually when the interests of more than one person
   are at stake and those intere...

     •      The principle of privacy: “Every person is entitled to privacy. In the
            absence of just...

     (iii)    The duty to minimise the interference with individual privacy by
              disclosing the mi...

   not at risk of inheriting the same condition and if it is positive she can have
   prenatal diagnosis witho...

16. Presentation: A man with a strong family history of autosomal dominant
    bowel cancer (familial polyposi...

   younger had revealed important genetic information that could be useful to
   them before they were thinkin...

25. Presentation: A married couple in their early thirties, Polly and Richard, are
    referred to clinical ge...

29. Clinical background: As a result of the egg donation, another woman (or
    possibly more than one) may ei...

    the person cannot be contacted, provisions in the Human Tissue Act 2004
    (also applicable in Scotland) ...
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  1. 1. Freedom of HGC09/P26 Information Status OPEN HUMAN GENETICS COMMISSION CONFIDENTIALITY AND INFORMATION SHARING IN CLINCAL GENETICS Paper HGC09/P26 Purpose This paper seeks Members’ views on circumstances in which it may be acceptable to disclose the results of genetic tests without the consent of the person from whom the biological material was obtained and, in particular, on advice that they wish to offer to the JCMG to assist it in revising its guidance on genetic testing and sharing genetic information. Introduction 1. The importance of confidentiality in relation to genetic information needs to be located in the midst of a series of related and, in some cases, indissociable practical conditions. The circumstances in which (and the purposes for which) samples were obtained and retained, tests carried out and the information obtained from those tests retained, may all be relevant to the conditions in which a disclosure of information may be lawful and appropriate. Foremost among those circumstances is the existence of the valid and subsisting consent of the person from whose body the biological sample was obtained. 2. However, there are circumstances in which it might be appropriate to override the absence of such consent, even an active refusal of consent, and even to the extent of interfering with a competent adult individual’s bodily integrity against their will to obtain a sample for testing.1 The requirement for consent is therefore not absolute, holding in all conceivable circumstances. Clearly defining the circumstances in which disclosures without consent are acceptable is therefore of high importance. 1 Section 62 of the Police and Criminal Evidence Act 1984, for example, makes this provision in relation to samples required for criminal justice purposes. HGC09/P26 – PAGE 1
  2. 2. HGC09/P26 3. These circumstances are usually when the interests of more than one person are at stake and those interests are not reconciled. Genetic information is a paradigm case (although not unique in this respect) of information obtained through testing one person that may be strongly relevant to another person to whom they are closely biologically related. 4. The General Medical Council (GMC) has published new guidance on confidentiality. The Guidance is attached at Annex A and came into effect on 12 October 2009. It recognises that genetic information is a class of ‘shared information’2 and advises that: “If a patient refuses consent to disclosure, you will need to balance your duty to make the care of your patient your first concern against your duty to help protect the other person from serious harm.” (paragraph 69) 5. The Joint Committee on Medical Genetics (JCMG) of the Royal College of Physicians, Royal College of Pathologists and the British Society for Human Genetics, produced guidance on genetic testing and sharing genetic information in 2006. This is attached at Annex B. In the light of the publication of the new GMC guidance, the JCMG is currently considering the need to revise this guidance. Background 6. Members may wish to have regard to a number of high level declarations, relevant legal instruments and professional guidance. Extracts from some of these are reproduced at Annex C. There is a lack of relevant case law bearing on disclosures of genetic information to family members without consent in UK jurisdictions. 7. Members may also wish to recall the principles identified and espoused by the HGC in Inside Information, including: • the concept of genetic solidarity: “We all share the same basic human genome, although there are individual variations which distinguish us from other people. Most of our genetic characteristics will be present in others. This sharing of our genetic constitution not only gives rise to opportunities to help others but it also highlights our common interest in the fruits of medically-based genetic research.” • The principle of respect for persons: “Respect for persons affirms the equal value, dignity and moral rights of each individual. Each individual is entitled to lead a life in which genetic characteristics will not be the basis of unjust discrimination or unfair or inhuman treatment.” 2 “Genetic and some other information about your patient might at the same time also be information about others the patient shares genetic or other links with.” (paragraph.67) HGC09/P26 – PAGE 2
  3. 3. HGC09/P26 • The principle of privacy: “Every person is entitled to privacy. In the absence of justification based on overwhelming moral considerations, a person should generally not be obliged to disclose information about his or her genetic characteristics.” • The principle of consent: “Private genetic information about a person should generally not be obtained, held or communicated without that person’s free and informed consent.” • The principle of confidentiality: “Private personal genetic information should generally be treated as being of a confidential nature and should not be communicated to others without consent except for the weightiest of reasons.” 8. A relevant extract from chapter 3 of Inside Information, relating to disclosure of genetic information in a medical context, is attached at Annex D. 9. In relation to disclosures that promote the interest of one person whilst interfering with the interests of another, the respect that is due to each of them requires a balance to be struck. Two corollaries of the respect for persons are particularly relevant to clinical professionals faced with this type of situation, when a practical decision has to be reached: the principle of ‘minimum harm’ (which is a corollary of equal respect for persons), and the duty to protect and promote the autonomy of patients, which is achieved by providing them with information relevant to decisions with significant clinical consequences for themselves or their offspring. 10. These ethical principles can be further specified as professional and moral duties in relation to disclosures without consent: (i) The duty of care to patients, which is usually consistent with maintaining information about them in confidence but which may involve balancing one patient’s interests against those of another or others, and reconciling these in accordance with the principle of minimal harm. The principle of minimal harm in this case requires minimal interference with a person’s interests consistent with giving each a sufficient opportunity for autonomous decision making to the extent that the available clinical information might afford (consistent with (iii) below). (ii) The duty to protect the health of others by promoting the positive value of disclosure of clinically relevant information to those to whom it may be relevant, in order to maximise the resources for autonomous decision making of family members who could be affected or pass on a condition to their children. HGC09/P26 – PAGE 3
  4. 4. HGC09/P26 (iii) The duty to minimise the interference with individual privacy by disclosing the minimum information relating to any individual who does not consent to the disclosure consistent with providing the information recipient with sufficient opportunity for autonomous decision making, to the extent that the available clinical information might afford. This may involve sequential and incremental provision of more detailed information in a way that gives the person receiving the information the greatest control over what information they receive and when. 11. In Inside Information, the HGC set out a three part ‘proviso’ for the disclosure of information in the face of a refusal of consent: “(1) an attempt has been made to persuade the patient in question to consent to disclosure; (2) the benefit to those at risk is so considerable as to outweigh any distress which disclosure would cause the patient; and (3) the information is, as far as possible, anonymised and restricted to that which is strictly necessary for the communication of risk.” (paragraph 3.68 – see Annex D) Examples 12. In considering the lawfulness and appropriateness of disclosing information without consent it is useful to consider the practical situations in which the question might arise. A number of examples have been proposed of cases in which disclosure without consent might be appropriate. Each of these requires clinicians to reach a decision that balances the interests of the individuals involved (including their wider families). Example 1: disclosure without consent at request of a family member for risk fully-penetrant, serious disease 13. Presentation: A woman is pregnant and concerned that her baby may be at risk of inheriting the condition affecting her sister's son, who has obvious muscle weakness. She does not know the name of his condition and her sister will not talk about it. She believes that her sister would not approve of her wish to consider prenatal diagnosis and possible termination of pregnancy, and would therefore not want to pass on any information. The sister’s son is a patient at the clinical genetics centre to which the pregnant woman has presented and the centre therefore has access to the information about his diagnosis. (A similar example is discussed in the papers at Annexes E and F.) 14. Clinical background: The sister’s child has Duchenne muscular dystrophy with a known mutation in the Dystrophin gene. The pregnant woman can be offered a carrier test; if it is negative she can be reassured that her baby is HGC09/P26 – PAGE 4
  5. 5. HGC09/P26 not at risk of inheriting the same condition and if it is positive she can have prenatal diagnosis without being told anything specific about her nephew's medical condition, although she would need to be told that she was a carrier of Duchenne muscular dystrophy, (as this information has implications for her own health, such as increased risk of cardiac arrhythmias, for which screening is available) as well as being advised about the reproductive implications (any son of hers would be at 50% risk of inheriting DMD, which is usually fatal towards the end of the second decade of life). Prenatal diagnosis for DMD would not be offered routinely in pregnancy and in order to carry out the test effectively, the testing laboratory would need to know the specific mutation for which to test. 15. Issues: The clinical team already hold the information about the nephew’s condition since he is their patient. However, they now want to use this information to establish the woman’s carrier status and hence the risk (if any) to her fetus. In order to carry out the carrier test on the woman or diagnostic test on her fetus, the clinical team must (1) confirm that there is a reason to do so, therefore necessarily confirming that the nephew is a patient and has a genetic condition and (2) disclose the nature of the test being carried out to the woman concerned in order to obtain her consent. To do so necessarily involves disclosing the nature of her nephew’s condition. The sister’s consent would ordinarily be required to disclose information about her child’s (the nephew’s) condition. A standard – although perhaps obstructive – way of thinking about these issues is to consider who ‘owns’ the genetic information in question. Two approaches try to remain consistent with the concept of information ownership. One is to distinguish the originator of the information (or the source from which the information was deduced) from the subject of the information (with genetic information, information obtained from tests on one person may have more than one subject). Another is to distinguish two kinds of information, the information from the test result (which belongs to the person tested) and the information about risk (which belongs to all the people who are at risk through). In this case the clinician knows that her patient’s risk is about 3,000 times higher than in the general population. Variations: This example could be extended to a preconception situation, where the woman in the example seeks information before attempting to conceive rather than when she is already pregnant. It also raises the question of whether there could be a positive duty to inform family members who might conceive children who could inherit the condition at a given age (see example 3). Another variation, where the condition is familial breast cancer and the issue is of disclosure between siblings, one of whom is diagnosed as affected and the other at risk, is discussed in the paper at Annex G. Example 2: disclosure without consent at request of a family member for the purposes of managing the risk of a serious condition HGC09/P26 – PAGE 5
  6. 6. HGC09/P26 16. Presentation: A man with a strong family history of autosomal dominant bowel cancer (familial polyposis coli) came to the clinical genetic service for genetic testing but did not want his family to know the results; however his children were aware of the family history, and visited the genetics centre separately to find out whether they were at risk of getting bowel cancer at a young age. (A similar example is discussed in the paper at Annex H.) 17. Clinical background: If the father's test were negative for the mutation known to exist in his family, his offspring could be reassured that they were not at risk of inheriting a predisposition to bowel cancer and did not need testing. If the father's test were positive, his offspring they would be counselled and offered a test, with regular follow-up colonoscopy if their own results were positive. Annual colonoscopies are indicated for all individuals at risk. However, if the father had a negative colonoscopy at 50 then it would be very unlikely that he was affected by the condition and his children would therefore not be considered to be at risk. The risk of bowel cancer in people with a mutation is very high and many people in that situation choose to have a total colectomy (removal of the bowel) in order to reduce their risk of dying at a young age. 18. Variations: A variation of this example, using the example of Huntington’s disease is discussed in the paper at Annex G. A possibly relevant difference is that there is currently no effective treatment to arrest, reverse or ameliorate the symptoms in Huntington’s disease, although knowledge about whether an individual is affected or unaffected by the condition can be extremely important in informing choices and planning for the future, including making reproductive decisions. Examples 3: Management of information about those who are unaware they are at risk 19. Presentation: A woman had an amniocentesis many years ago to exclude Down's syndrome. The baby was found, unexpectedly, to carry a balanced chromosome translocation. As she was subsequently found to carry the same chromosome rearrangement she was reassured that there was no risk to the baby's health, but advised that the child should be told when it was older as there could be reproductive implications (increased risks of recurrent miscarriage or of conceiving a viable pregnancy with unbalanced chromosomes that would be expected to have significant developmental delay and physical problems). When the baby reached the age of 16 years the clinical genetics service checked via the NHS tracing system that the child was still alive, and checked with the GP that there was no reason not to contact the family, before writing to its parents reminding them that genetic counselling could be offered. They did not reply so when the young person reached the age of 18 the clinical genetics service wrote directly to them, with the GPs approval, to let them know that testing done when they were much HGC09/P26 – PAGE 6
  7. 7. HGC09/P26 younger had revealed important genetic information that could be useful to them before they were thinking of starting a family. 20. Clinical background: approximately 1 in 500 cases of testing for Downs’ syndrome reveal the fetus to have a balanced translocation. Although this may not have an observable effect on the child, there is a significantly higher risk that any child they have may carry an unbalanced chromosomal rearrangement which can prevent embryo development (i.e. cause effective infertility) or result in serious disability in a live born child. 21. Issues: there is a potential interference with the young adult’s autonomy in the provision of unsolicited information in that they cannot assert their right not to know (at least that they are at risk of being affected by a clinically relevant condition) in respect of the initial contact. However, their autonomy could be profoundly limited by not knowing that relevant information is available. It is understood that there are some, albeit very rare, cases in which parents may seek to avoid their children obtaining information of the sort in the example, for circumstantially or psychologically peculiar reasons. Example 4: Right to know v. right not to know 22. Presentation: A woman and her brother, both in their early 20s, approach their family doctor about the possibility of a predictive test for Huntington’s disease. Their maternal grandfather had the disease and they would like to find out whether they are going to develop symptoms later in life. They have discussed the possibility of a test, have thought about it very carefully, and have decided to come together for counselling and predictive testing. During counselling it becomes apparent that they have also discussed the possibility of testing with their mother, and she has told them she is very anxious about the possibility that she has the disorder, and does not want to know her status. (This example is reproduced from the paper at Annex E; a similar example is discussed in the paper at Annex F.) 23. Clinical background: Huntington’s disease is a serious, late-onset autosomal dominant condition for which no effective treatment is currently available. Any positive test result for the woman’s son or daughter would confirm that she carries the mutation. 24. Issues: One issue is that the children cannot know their own status, if it is positive, without knowing that of their mother (although her consent is not required for the test, since it is carried out on them and not on her). Consequently, if one of her children reveals their positive status to their mother, this would constitute an interference with her expressed wish, possibly formulated at the end of a sustained process of counselling and in the light of all available information, not to know her own status. Example 5: Genetic testing and adventitious discovery of non-relatedness HGC09/P26 – PAGE 7
  8. 8. HGC09/P26 25. Presentation: A married couple in their early thirties, Polly and Richard, are referred to clinical genetics following the diagnosis of a rare autosomal recessive condition in their newborn baby. The disorder is severe and debilitating and there is a high chance that the child will die in the first year. During their first session with the genetic counsellor, Polly and Richard are informed that there is a 25% chance that a future baby would also be affected. The couple are extremely distressed about this and Richard says he would prefer not to have any more children if they stand any chance of being affected. At the end of the counselling session, Polly and Richard make an appointment for a future meeting to discuss their reproductive options further. Between the two meetings Polly telephones the unit to say that Richard is not the father of the child. She says she wants the clinical team to know this but is adamant that she does not want Richard to find out. (This example is reproduced from the paper at Annex F.) 26. Clinical background: As the condition is recessive a child must inherit the relevant mutation from both parents to be affected. As the mutation is rare in the population, this means that, if what Polly says is true, whilst Richard believes he and Polly have a one in four chance of an affected child, the risk is in fact negligible, although their child might carry the mutation if it is inherited from its mother. 27. Issues: The misattributed paternity has consequences for how the couple should be counselled about their future reproductive options, or how the husband should be counselled with any future partner. Treatment options such as donor-assisted conception or PGD might be discussed if Richard carried the mutation but not if only one of the couple is a carrier of the condition. Example 6: Disclosure that does not necessarily entail disclosure of the identity of the individual from whom the information was obtained 28. Presentation: Ruth is a young woman in her mid 20s, who makes contact with her local clinical genetics unit because she wants to have a predictive test for breast cancer. There is a strong history of breast and ovarian cancer in her family—her mother, her grandmother, and her aunt all died of the disease at a young age. She also has an older sister who is presently undergoing treatment for breast cancer. A diagnostic genetic test in this older sister shows that she has a mutation in a gene that causes a very high lifetime risk of breast cancer (up to 80%). Thus, it is possible to do an accurate predictive test on Ruth to see whether or not she has inherited this mutation from her mother. After appropriate counselling, a test is done and the result is positive. During counselling after the test, Ruth says that about a year previously she donated eggs to a private fertility clinic. Ruth does not give permission for the counsellor to contact the clinic because she is afraid of getting into trouble. (This example is reproduced from the paper at Annex E.) HGC09/P26 – PAGE 8
  9. 9. HGC09/P26 29. Clinical background: As a result of the egg donation, another woman (or possibly more than one) may either have a child, an ongoing pregnancy or stored embryos with the gene mutation that causes up to an 80% lifetime risk of breast cancer. 30. Issues: Although the condition will not manifest until adulthood, it is not fully penetrant and some treatment may exist, the mutation has significant implications for any child born as a result. In this example, although the egg recipient may not know the identity of the donor (although known donation is also possible), where the donation occurred after 31 March 2005 (i.e. after the coming into effect of provisions in the Human Fertilisation and Embryology Authority (Disclosure of Donor Information) Regulations 2004 (S.I. 2004 No.1511)), any person child conceived as a result of the donation may apply to receive identifying information about the donor when they reach the age of 18. Example 7: Implied disclosure 31. Presentation: a patient with a family history of Huntington’s disease asks a clinical genetics service to carry out a diagnostic test. In order to ensure that the correct test is done the service needs to confirm that diagnosis in the family so they ask for the name and address of the affected relative. They then contact the relevant Regional Genetics Centre and ask if they can confirm the diagnosis. The centre responds that the affected person has not consented for their results to be passed on to a third party. However, the geneticists are willing to confirm that it would be appropriate to carry out a Huntington's test on the patient requesting it. 32. Clinical background: The centre needs to know that they are testing the correct gene and that the case is, in fact, Huntington’s disease and not a condition with similar symptomatology with which it may be confused; without this information there is a risk of a false negative result. 33. Issues: This example presents a factual question of whether the information amounts to a disclosure, given that this is implied rather than stated, since it is sufficient to deduce the diagnosis (the other assumed premise being that the centre would not recommend a test that would not be indicated. Assuming it does, the issue collapses into a matter of balancing of interests similar to example 1. Clinical staff should be aware, however, of the legal implications of their actions. 34. Variation: Perhaps a more likely alternative is the example in which the Regional Genetics Centre does not have a record of the consent of the affected relative as, as the person was last seen many years ago. In this case the principal issue is about contacting that person to obtain or confirm their consent after such a period of time. The testing laboratory requires a positive control sample for an accurate test. Where a sample is available and HGC09/P26 – PAGE 9
  10. 10. HGC09/P26 the person cannot be contacted, provisions in the Human Tissue Act 2004 (also applicable in Scotland) provide for alternative arrangements to be made to authorise the test, although if such use constitutes quality control (see Annex B, paragraph 1.3.7) specific consent is not required. Conclusion 35. Members are invited to consider the issue of disclosure of genetic test information without consent to family members and advise on circumstances in which disclosures without consent should be regarded as acceptable. HGC Secretariat December 2009 Annexes Annex A – GMC Guidance on Confidentiality (available at: www.gmc- Annex B – JCMG guidance on genetic testing and sharing genetic information (available at: JCMGreportJul06.pdf) Annex C – Relevant legal instruments and guidance (available at:, and Annex D – Extract from Chapter 3 of Inside Information (available at: Annex E – Parker and Lucassen, “Working towards ethical management of genetic testing”, The Lancet, Vol 360 (November 23, 2002), pp. 1685-1688 Annex F -- Parker and Lucassen, “Concern for families and individuals in clinical genetics”, J. Med. Ethics, Vol.29 (2003), pp. 70–73. Annex G – Lucassen and Parker “Confidentiality and serious harm in genetics – preserving the confidentiality of one patient and preventing harm to relatives”, European Journal of Human Genetics (2003) 12, (2), pp.93-97 Annex H – Lucassen, “Ethicolegal aspects of genetics in surgical practice”, Ann. R. Coll. Surg. Engl. 2009; 91 (This article contains a discussion of relevant legal cases in the US.) NB external URL links are accurate at the date of writing but may be subject to change. HGC09/P26 – PAGE 10