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Inside InformationBalancing interests

in the use of personalgenetic data

A summary report by the Human Genetics Commission

May 2002

In November 2000 we published Whose hands on your genes?,a consultation paper which raised a wide range of issuesrelated to personal genetic information. Since then we haveplayed a part in the important public debate which our societyhas been having about the broader implications of advances inhuman genetics.

The public response to our consultation was extremelyencouraging. We have now completed our discussions andit is a very great pleasure to finally publish our report. Thissummary outlines our main conclusions and recommendations.Some of our recommendations are very specific and areaddressed to Ministers, others are intended for people andorganisations involved with the use of personal geneticinformation in all its different settings.

In the subtitle of this report we talk of balancing interests.This is an important aspect of our work. I am very much awareof the fact that people approach this issue of personal geneticinformation from varying perspectives. We have tried here totake account of a wide spectrum of views and have attemptedto reach conclusions which are morally defensible and sensitiveto the different interests involved.

Helena Kennedy QC,Chair, Human Genetics Commission

May 2002

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Inside Information

FOREWORD

Who and why

1. The Human Genetics Commission is theGovernment’s independent advisory body on socialand ethical issues in human genetics. We havecarried out a broad enquiry into the way people’sgenetic information is stored and used and how it isprotected. We have heard from a wide range oforganisations and people about how this happensnow and their suggestions for how this could bedone in the future. We have discussed this in detailat several of our meetings and have come to anumber of conclusions based on what we haveheard. These conclusions and our recommendationsto Government are set out in full in our report“Inside Information – Balancing interests in the useof personal genetic data”

Why did we review personal genetic information?2. When we consulted people about our first workplan, personal genetic information emerged as apriority area. We felt that it was important to look atthe broad range of issues involved in collecting,storing and using information about people’sgenetic characteristics. One of our first pieces ofwork was a large-scale survey of public attitudestowards personal genetic information. Thisconfirmed that people really are very concernedabout how information about their DNA is going tobe stored and used. But the survey also showed thatthe vast majority of people recognise the importance

Inside InformationSUMMARY

of medical research in this area. Continued researchis vital and this will require the co-operation andtrust of large numbers of people. We want to ensurethat the exciting prospects for genetic research willnot be impeded by public anxiety.

How 3. One thing we quickly decided was that ourreview had to be broader than previous ones thathad considered only the issues surrounding genetictesting. We decided that our review would considerissues like family medical history and informationabout family relationships – such as that providedby paternity testing. We also considered questionsabout consent, confidentiality and protection ofgenetic information in medical practice, and inmedical research as well as in other areas such asinsurance, employment and police investigations.In November 2000 we launched a discussiondocument called “Whose hands on your genes?”which sought views on this. We had a very goodresponse to this document, both from organisationsand individuals. We also held two large publicmeetings, at which we had the opportunity todiscuss these issues face to face with a wide rangeof interested people.

4. We met a number of key national andinternational organisations to discuss relevant areasof concern and drew on the work of the Scienceand Technology Committees of the House ofCommons and the House of Lords. Finally, we sentdetails of our recommendations to our newConsultative Panel of people affected by a genetic

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disorder (106 people with experience of a range ofgenetic conditions, either themselves or in membersof their family) to see what they thought.

What have we concluded?5. In the main, people see genetic informationas special and as a private matter and we agreethat there are sometimes good reasons for this.However, not all genetic information has the samelevel of sensitivity. Some information is especiallysensitive, for example a test result that tells whethersomeone will develop a serious genetic conditionin the future. We feel this type of information needsadditional protection. In particular, we see a needfor specific protection against the wrongful ormalicious use of personal genetic information.

6. People need to feel confident that propersafeguards are in place, and maybe moreimportantly, that they are rigorously monitored.But we must not miss out on the major benefitsthat medical research using genetic informationcan bring and we should not hinder research withunworkable restrictions. So society needs to achievethe right balance between an individual’s interestin privacy and the interests of others in benefitingfrom the use of personal genetic information formedicine or research. People have concerns aboutthe potential misuse of personal genetic informationso we need to establish a system that promotespublic trust about how it is handled. This trust, ofcourse, must be justified and we believe that a newoffence covering cases where, for non-medicalpurposes, genetic information is wrongfullyobtained or disclosed could help achieve this.

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7. There was wide support for the idea of geneticnon-discrimination and we recommend that theGovernment look at drawing up separate UKlegislation to prevent such discrimination in areassuch as employment and insurance.

What is personal genetic informationand is it special?

8. We need to be clear about what personalgenetic information is before we can makerecommendations about the ways it which it shouldbe used. We have decided to adopt a broaddefinition: that personal genetic information is anyinformation about the genetic make-up of anidentifiable person, whether it comes from DNAtesting or from any other source (including thedetails of a person’s family history). Within thisdefinition we have identified different types ofinformation based on how observable or privateit is, and how sensitive it is. Some personal geneticinformation is not considered private becausepeople can see it, for example your eye colour.Other information, that is not directly observable,is nonetheless private and a person will wantsome control over who has access to it. Geneticinformation of a medical nature (such as diseasecarrier status, or the results of a DNA test about thetype of cancer someone has and how easily it canbe treated) is an example of this sort of information.

9. In some situations genetic information, eitherobservable or private, can be especially sensitive toa person or his or her “blood relatives” (forexample a test result that reveals someone will

develop a serious genetic condition in the future).Most predictive genetic tests would fall into thiscategory. The sensitivity of this sort of informationalso depends on whether or not the personinvolved can be identified. If the personal identifiershave been removed and the information cannot belinked to the person it came from, then it cannot beused in any way that will affect that person.

10. Some types of personal genetic information aremore sensitive than others and we recommend thatthe level of protection needed will depend on howsensitive the genetic information is. Our findingsshow that people feel that private and sensitivepersonal genetic information should be treatedconfidentially, which in many cases will meantreating genetic information like other medicalinformation and protecting it in the same way.But in some cases this type of information mayneed additional protection and our reporthighlights situations when this should happen.

General principles for the way we treat personalgenetic information

11. We have set out general principles to promotethe use of genetic information in a fair and ethicalway. Genetic knowledge may bring people into aspecial relationship with one another. We lead ourlives as members of large and small communitiesand we have certain duties to other members ofthese communities. Such duties can include notcausing harm to others and doing things to helpthem. Sharing our genetic information can give rise

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to opportunities to help other people and for otherpeople to help us and we have a common interestin the benefits that medically-based genetic researchmay bring. We have, therefore, set out a concept ofgenetic solidarity and altruism. This supports theidea that, for example, although nobody should feelpushed into taking part in genetic research, whenthey make this decision people should be awarethat by taking part they might help those sufferingfrom disease.

12. We have drawn up some principles based onthe overarching idea of the respect for persons,which means that everyone should have their rightsand dignity respected in the same way regardless oftheir genetic characteristics. We need to be sensitiveto the special role that genetic identity has come toplay in people’s lives. From the broad principle ofrespect for persons we have concluded:

• that everyone is entitled to privacy andshould not have to disclose informationabout personal genetic characteristics;

• that private genetic information should not beobtained or held without a person’s consent;

• that private personal genetic informationshould be treated as confidential and notcommunicated to others without a person’sconsent; and

• that no one should be unfairly discriminatedagainst on the basis of his or her geneticcharacteristics.

(There will of course be certain exceptions, forexample where public safety issues are involved.)

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Protecting personal genetic information

13. Our findings and discussions have led us to theconclusion that there must be systems in place thatpromote public trust about the ways that clinicians,researchers and ultimately the State handle geneticinformation. People need to feel confident that theirinformation is safe from being used in the wrongway. We examined existing protections and havemade recommendations for their monitoring andpossible improvement.

14. We also looked at possible ways in whichgenetic information might be wrongfully used andconsidered whether these are covered by existinglaws. In particular we identified some possiblemalicious or deceitful ways in which personal geneticinformation might be obtained or used, for example:

• if an unscrupulous journalist secretly takes aneveryday object used by a public figure, forexample a coffee mug, and having analysedthe DNA sample obtained from it, publishestheir genetic information;

• if someone finds out the names of peoplewho have given samples for a research studyby breaking the code protecting their identityand then passes these details on to aninsurance company or a researchorganisation;

• if a suspicious family member secretly tests achild to see if the child is really related toanother family member or not.

15. This sort of activity would often be a grossintrusion into another’s privacy and we do not think

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there is sufficient legal protection to prevent this atthe moment. We therefore recommend that theGovernment consider whether there should be acriminal offence of deceitfully obtaining andanalysing another person’s genetic information fornon-medical purposes.

Personal genetic information in clinical practice

16. We support a right to genetic privacy whichentitles people to have control over their geneticinformation and requires that they give consentbefore genetic tests are carried out. The requirementof consent is made clear in all major professionalcodes. People need information before they cangive a valid consent, and we feel that the amount ofinformation needed depends on whether the test islikely to reveal sensitive genetic information or not.

17. Not surprisingly, people want the details of theirgenetic information to be treated confidentially.Health professionals are used to dealing withconfidential medical information, and there arealready general protections in place. Breachinga patient’s confidence is usually treated as a matterof serious professional misconduct. We agree with thisapproach. However people must have confidence inthe way wider medical information is stored. We donot think it would be sensible or possible to makeseparate arrangements to store genetic informationwithin the health service. At the same time, westress the sensitive nature of genetic information andthe need to keep it confidential and to encouragethe relevant professions and employers to makesure that all staff are fully aware of the need torespect confidentiality.

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Consent and confidentiality: special cases ingenetics 18. Having stressed the importance of consent andconfidentiality, we have identified some cases whenspecial rules apply. For example, care needs to betaken when children are to be tested for geneticdisorders that only cause symptoms in later life;in general such tests should wait until a child canmake up his or her own mind about the test. Insome cases adults may not have the capacity to giveconsent to genetic testing and so the decision mayneed to be made on their behalf. We make somedetailed comments about how best to approach theissue of consent in such cases. Sometimes it may benecessary to test a person after death to help a livingrelative and we recommend in general that doctorsshould presume that the dead person would havewanted to help the relative and therefore wouldhave given their consent to post mortem testing.

19. Disclosure of sensitive personal geneticinformation without consent may be justified in rarecases where a patient refuses to consent to suchdisclosure but the benefit to other family membersor the wider public substantially outweighs the needto respect confidentiality. We would expect this toremain an exceptional situation.

Medical research and personal genetic information

20. Much research will be needed before scientificadvances like the sequencing of the human genomecan be translated into practical medical benefits.In our discussions we have recognised the scientificimportance of genetic research and the need to

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make sure people feel able to participate in it. Codesand guidelines already exist to regulate biomedicalresearch and our findings do not suggest that thereneeds to be a separate regime for research involvinghuman genetic material. However, we recommendthat an independent ethics committee shouldapprove all research projects using human geneticinformation or material that can be linked to anidentifiable person.

21. In obtaining consent from research participantswe feel that researchers should use clear terms sothat people understand how and to what extenttheir information will be protected. They may alsoneed to know whether and how samples andinformation will be anonymised (so that researchmaterials cannot be linked to a particular person).People should understand the general nature of theresearch, and should be asked to give their consentagain if research of a fundamentally different natureis then proposed. We have suggested how samplesand genetic information that has been madepermanently anonymous can be treated differently.

Insurance and employment

22. Our ability to carry out predictive genetic testinghas increased with the growth of genetic knowledge.It is therefore increasingly important to ensure peopleare not treated unfairly because of their geneticcharacteristics. We found there was a great deal ofopposition to “genetic discrimination” and we haveidentified a good case for new legislation to stop this.People have already raised concerns about unfairdiscrimination in employment and insurance, but any

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legislation will need to be wide enough to cover futureareas of concern such as education and healthcare.

23. We recommended last year that there shouldbe a moratorium on the use of adverse genetic testresults in setting insurance premiums. We are awarethat people feel strongly about this. We welcomethe agreement by the insurance industry andGovernment to a five-year moratorium covering thevast majority of insurance policies. The moratoriumgives time for more public discussion of the issuesand we suggest some areas for further discussionand research during the moratorium. We havealready said that we wish to look at the use of familyhistory information, but we do not believe that itshould be covered by the moratorium at this stage.

24. There is no evidence that employers in the UK aresystematically using genetic test results to recruitpeople or using such tests as part of workplace healthprogrammes. We feel that at present there are bettermethods of detecting a person’s risk of future illhealth. We support previous recommendations thatemployers must not demand that employees takegenetic tests as a condition of employment. Theremight be some cases where an employer will wantto offer genetic testing to an employee, and werecommend that employers, unions and otherinterested groups bring these cases to our attentionso that we can consider the implications.

Forensic uses of personal genetic information

25. Our findings show that there is much supportfor the use of the National DNA Database to helpthe police to investigate crime. Some people and

organisations have expressed concerns aboutcertain aspects of the present arrangements andwe feel that these could affect public confidencein the database. For example, people are concernedabout samples being taken for relatively trivialoffences and about how long samples are kept.We draw an important distinction between theDNA fingerprint – a numerical barcode on acomputer – and the original sample that is keptin storage. Because the samples contain the fullgenetic information of the individual, we believethat the future use of such samples should besubject to controls. We recommend that in orderto increase and maintain public confidence thereshould be an independent body, which wouldinclude lay members, to oversee the way theNational DNA Database works.

26. Forensic DNA-related research is also beingcarried out. For example, there is research intoways of building up a “genetic photo-fit” of theappearance of the person on the basis of geneticinformation found in a sample from a crime scene.More controversially, this might be extended tobehavioural traits and even medical information.We are aware of possible public concerns over usinggenetic information to predict the characteristics ofa person, which is significantly different from usingit for comparison and identification purposes.

27. We also recommend that the police and otherofficial bodies should not have access at all togenetic research databases and that this should beclarified in law. Otherwise, we are concerned thatpeople will not want to be part of important newresearch projects like BioBank UK.

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Parentage testing and family relationships

28. We have also considered the use of DNA testingtechniques to establish family relationships. Thesetests – often called paternity tests – are used widelyto check child support or immigration claims,in civil court cases for divorce and child custodyor inheritance. The techniques used are similarto police DNA fingerprinting. We are broadlyhappy with the regulation of UK paternity testingcompanies which abide by a Government codeof practice. But more and more people are makinguse of companies overseas which advertise on theInternet. We recognise the difficulty of regulatingthis and we shall be considering the matter morefully as part of our review of the provision ofgenetic testing services offered directly to the publicthat the Government has asked us to complete bythe end of 2002.

Find out more 29. Full copies of our report “Inside Information –Balancing interests in the use of personal geneticdata” can be obtained from:

PO Box 777LondonSE1 6XH

fax: 01623 724524e-mail: [email protected]

Or visit our websitewww.hgc.gov.uk/insideinformation/.

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Our conclusions and recommendations in full The following is taken from our full report and gives moredetails about the issues that we have considered and theconclusions that we have reached. Our formalrecommendations to Ministers – about policy or areas thatwe wish to consider further – are indicated in bold type. Inother cases, we make recommendations, often about whatwe deem to be best practice, that others may wish toconsider. The numbers in brackets refer to the relevantparagraphs of the full report.

Scope and general principlesWe consider personal genetic information to be informationabout the genetic make-up of an identifiable person, whetherderived directly from DNA (or other biochemical) testingmethods or indirectly from any other source. Within thatdefinition we have identified several sub-categories, basedon criteria of observability, privacy, and sensitivity (1.11).

While we may not share all of the concerns that have beenvoiced, our enquiry confirms the view that people do feelthat personal genetic information is a private matter andwe believe that there are good reasons for this (1.26).

We therefore do not feel that all personal genetic informationbe treated in the same way in every set of circumstances.Requirements of consent and confidentiality, for example,may be expected to differ according to the specificcircumstances (1.26).

Our aim in this report is to suggest how interests in geneticprivacy and confidentiality can be protected in a way thatdoes not harm comparably important interests of others.We have set out a number of principles to achieve this,many of which are laid down in international declarationsand conventions which seek to establish a common ethicalframework. One such instrument which we believe tobe particularly important is the Council of Europe’sConvention on Human Rights and Biomedicine, and we

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recommend that the Government take steps towardssigning and ratifying this Convention (2.7).

Genetic knowledge may bring people into a special moralrelationship with one another. We have therefore proposedthe following concept of genetic solidarity and altruism,which promotes the common good (2.11):

We all share the same basic human genome, althoughthere are individual variations which distinguish usfrom other people. Most of our genetic characteristicswill be present in others. This sharing of our geneticconstitution not only gives rise to opportunities to helpothers but it also highlights our common interest inthe fruits of medically-based genetic research.

We share the assumption of our society that individualpersons have the highest moral importance or value.This requires us to be sensitive to the special role thatgenetic identity has come to play in people’s lives.We therefore express the following key principleof respect for persons (2.20):

Respect for persons affirms the equal value, dignityand moral rights of each individual. Each individualis entitled to lead a life in which genetic characteristicswill not be the basis of unjust discrimination or unfairor inhuman treatment.

We believe that a number of secondary principles may bederived from this overarching principle, taking account ofthe possible claims of genetic solidarity and altruism (2.22):

Every person is entitled to privacy. In the absence of justification based onoverwhelming moral considerations, aperson should generally not be obligedto disclose information about his or hergenetic characteristics.

The principle ofprivacy

Clinical practiceGenetic information about an individual should be underthat person’s control. The consent of the individual istherefore required before this information can be obtained.This also protects him or her from being given informationthat he or she may not wish to know. We thereforerecognise that people have an “entitlement not to know”genetic information about themselves (3.6).

We conclude that the nature and extent of information thatis required in seeking consent for a genetic test dependon whether the test in question is likely to reveal sensitivegenetic information – information which has specialsignificance for the patient or for the patient’s relatives.We offer some points to consider in seeking consentfor different sorts of genetic test (3.18).

Genetic testing may reveal unexpected information, forexample about parentage. We recommend that best practicefor clinicians is that, however remote, the wider implicationsof testing should be discussed before consenting to a genetictest (3.24).

No person shall be unfairlydiscriminated against on the basis of hisor her genetic characteristics.

The principle ofnon-discrimination

Private personal genetic informationshould generally be treated as being ofa confidential nature and should not becommunicated to others without consentexcept for the weightiest of reasons.

The principle ofconfidentiality

Private genetic information abouta person should generally not beobtained, held or communicatedwithout that person’s free andinformed consent.

The principle ofconsent

We also wish to give further consideration topharmacogenetic testing, especially to the wider socialand ethical implications of its increased use in theregulation and prescribing of medicines (3.30).

We do not believe that it is feasible for separate arrangementsto be made for the storage of genetic information withinthe health service, but nonetheless we point out that thepotentially sensitive nature of this information underlinesthe importance of protecting the confidentiality of patientmedical information in general (3.36).

We intend to monitor any future schemes for the readystorage and accessing of genetic information forprescribing purposes (3.37).

We believe that the requirements of medical confidentialityneed to be clearly understood, at all levels and across theentire medical and biomedical research field. Adherenceto confidentiality should become an essential part ofemployment contracts and of membership of relevantprofessional bodies. This should be backed by sanctions.We comment on the possible need for a broader offenceagainst breach of medical confidence, which is beyondthe scope of this report (3.39; 3.48).

However, it appears to us that the law may not sufficientlyprotect against the unauthorised obtaining of genetic testsor the unauthorised disclosure of genetic information ina non-medical setting.

We recommend that consideration be given to thecreation of a criminal offence of the non-consensual ordeceitful obtaining and/or analysis of personal geneticinformation for non-medical purposes (3.60).

We believe that it would be sensible to conduct our reviewof direct access to genetic tests in the light of ourrecommendation relating to a new criminal offence (3.61).

The general duty to maintain the confidential nature ofpersonal genetic information is not an absolute one. We notecircumstances where it may not be appropriate, such aswhere consent is given or where it is in the interest of thepatient, of relatives, or of the wider public (3.62).

Bearing in mind the principle of genetic solidarity andaltruism, we take the view that the disclosure of sensitivepersonal genetic information for the benefit of familymembers in certain circumstances may occasionally bejustified. This would arise where a patient refuses to consentto such disclosure and the benefit of disclosure substantiallyoutweighs the patient’s claim to confidentiality (3.68).

In some cases a person may wish to disclose confidentialinformation if he or she feels that is necessary for reasons ofpublic safety. We believe that in exceptional cases it shouldbe permissible to reveal personal genetic information inorder to avert substantial harm to others (3.72).

Although we understand the concerns of relatives over therevealing of family medical history, we believe that it isproper for questions in this area to be asked by cliniciansand genetic counsellors, and we believe that the patienthas a right to disclose it (4.1).

We believe that there may be a need for secondarylegislation to ensure that the holders of informationabout genetic relatives in a clinical context arespecifically exempted from their normal obligationsof notification and provision of information to suchrelatives under the Data Protection Act (4.7).

Carrier testing is used to determine whether a person carriesthe gene for a recessive genetic condition. Consent to thisform of testing requires information about the implicationsof carrier status, both in terms of the psychological andsocial impact on the affected person and in terms of theimplications it may have for reproductive decisions (4.15).

We intend to consider the matter of prenatal genetictesting in more detail in our work on genetic testingand reproductive choice (4.21).

At present, we recommend that where multiple genetic testsare carried out, it should be explained to the patient whatthe principal purpose of testing is, and that it will revealadditional information. We recommend that before newmultiple genetic tests are introduced, the implications foradequately informed consent are considered carefully (4.26).

The placing of a large amount of genetic information abouta person on a single electronic record could also posea challenge to privacy. We conclude that there are nopersuasive reasons to resist the introduction of newinformation storage technologies even if these do present somechallenges to confidentiality. At the same time, we stress theimportance of incorporating the traditional principle of medicalconfidentiality into the regulation of such technologies (4.32).

Genetic screening programmes are important in preventingill health, but they raise certain ethical issues which wediscuss in this report.

We shall be monitoring developments in nationalscreening programmes and will be consideringscreening issues as part of our planned work ongenetics and reproductive choice (4.35).

There are particular legal and ethical issues involved inthose cases where consent cannot be obtained from theperson being tested. We endorse the recommendationof the Advisory Committee on Genetic Testing that greatcaution should be observed in the testing of childrenfor late-onset disorders (4.38).

We conclude that benefit to a relative, and hence indirectbenefit to the interests of the tested person, should befactors to be taken into account in deciding whether genetictesting should be carried out on a person who is unable toconsent to it (4.57).

There may be some clinical situations where geneticinformation about the dead is needed in order to assessa risk to a living relative. This information may be obtainedby testing samples removed from an individual during life.The approach we favour is that a presumption shouldbe made that the dead person would have consentedin his or her lifetime to such testing and that this justifiespost-mortem testing (4.67).

In other cases, if testing of samples from the dead is notjustified by weighty reasons such as the significant interestsof other family members or of the wider public, then suchtesting should be regarded as unethical (4.73).

Research and genetic databasesOur understanding of genes and of how they work inthe human body is the result of prolonged and extensiveresearch efforts. If this understanding is to be translatedinto therapeutic benefit, such research must be givenevery encouragement. Genetics is a vital part of this andwe therefore all have an interest in successful genetics-basedmedical or health-related research (5.1).

The ethical implications of dealing with genetic materialand information differ according to whether or not thematerial or information is anonymised – i.e. separated frominformation that can link it to an individual. It is importantthat satisfactory techniques of encryption be used wherethe anonymisation is to be reversible. We recommendthat the Government gives a firm commitment tofunding research and development initiatives on thisimportant aspect of data security (5.13).

The very nature of DNA limits the process of completeanonymisation, because it may be possible to link a sample byuse of “DNA fingerprinting”. We nonetheless feel that forpractical purposes the concept of anonymisation is valid (5.14).

The need to obtain the consent of the participant at the outsetis a fundamental principle of ethical research. We devoteconsiderable attention to issues that must be addressed inconsent procedures for different types of research (5.15).

We acknowledge the importance of initial consent,but consider that repeated processes of re-consent forsubsequent use are impractical and, moreover, maybe unnecessarily intrusive. We therefore consider thatit is acceptable to seek general consent where there isto be anonymisation of data and samples. We consider thatspecific consent may be required where data or samplesare not anonymised (5.19).

The Health and Social Care Act 2001 entitles the Secretary ofState to authorise the use of patient information in researchwithout seeking patient consent to this use. We note theobjection that this constitutes a significant exception tothe normal rule of confidentiality and to the principle thatresearch on patient information should proceed only withthe consent of the patient in question. At the same time,we appreciate the importance of such research in areas suchas cancer registries. We intend therefore to monitor theuse of these powers and seek to work with the PatientInformation Advisory Group on this issue (5.21).

In all cases, we consider that best practice requires thatthe consent should clearly specify the arrangements forwithdrawal from the study and the subsequent fate ofsamples and data (5.22).

Access to samples and personal genetic information may needto be made available to commercial organisations engaged inhealth-related research of public benefit. We note some publicdisquiet, but the development of medicines and treatments islargely a commercial undertaking and would be severelylimited if commercial access were denied. We concludethat best practice requires that the question of commercialinvolvement in research or access to genetic databases shouldbe fully explained at the time of obtaining participants’

consent. This should include a brief explanation of anyintellectual property issues. In order to allay concern aboutwider uses it might be necessary to give commercial accessonly to companies engaged in health-related research (5.25).

There are important collections of samples which wereobtained in the past and which may not be covered by anydonor consent to research use. It is our view that it wouldbe undesirable to prohibit the use of such material in caseswhere it is not possible to trace the donors and obtain theirconsent. We therefore endorse the advice given by theMedical Research Council that samples from historicalcollections may be used subject to certain conditions (5.27).

Tissue left over from surgical operations provides a richpotential source of research material. We believe that bestpractice requires that tissue left over from surgicalprocedures should only be used for research if the patient hasconsented. But we believe that it is acceptable to use oldercollections already obtained and where consent was notsought. Such samples, however, must be anonymised (5.28).

We note the different ways in which ethical oversight andapproval of research is provided. We do not recommend theseparate regulation of genetics research, but we are aware ofcriticisms of the current system of ethics committeeregulation, which need to be addressed. We conclude thatbest practice requires that all genetic research on humannon-anonymised tissue samples or bodily materials shouldbe subject to review by an independent research ethicscommittee and should be monitored for compliance throughclearly specified arrangements (5.33).

We do not at this stage believe that it is necessary for theGovernment to introduce new legislation to ensure ethicaloversight of all genetic research. It may be sufficient for theGovernment and other bodies to make a clear public statementon this matter. We recommend that the Government shouldencourage relevant research institutions, professionalbodies and funding organisations to establish clear

policies aimed at ensuring compliance with emergingbest practice in ethical research. We also recommendthat compliance with best practice and the applicationto research in genetics of the new standards for thegovernance of research ethics committees is formallyreviewed in three to five years’ time (5.37).

We comment on aspects of the research use of currentand planned large genetic databases. The question of whobenefits from the setting up of these databases is a complexone. In return for altruistic public involvement in suchresearch, there should be some benefit for the participants,or, in the widest sense, the community from which theyare drawn. All we would affirm at this stage is that large-scale population genetic databases, established with andsupported by public funding, constitute a national asset.This means that national benefit and interest should be takeninto account in determining the terms upon which accessis to be granted to such databases. We think that a morallysensitive regime can and should be worked out forthe use of large-scale genetic databases and we proposeto continue our discussions on this, and other issues,with those responsible for BioBank UK (5.44).

We consider what mechanisms should be in place to weighconflicting claims and priorities in deciding on access toresearch genetic databases or collections. We thereforerecommend that the governance of genetic researchdatabases and DNA collections should allow foroversight by an independent body – whether it is anethics committee or another body – which is separatefrom the owners and users of the database (5.45).

The confidentiality of the information stored in the databaseis a major concern for participants. We recommend thatthe operators of all genetic research databases shouldbe required to take rigorous steps to ensure thatunauthorised access or disclosures are prevented (5.49).

We recommend that genetic research databasesestablished for health research should not be used forany purpose other than such research and that this beput beyond any doubt, by legislation if necessary (5.50).We touch on this in later sections relating to forensic uses ofpersonal genetic information.

Insurance and employmentWe consider how personal genetic information obtained in aclinical or research setting is used in other areas. We haveprimarily looked at the use of personal genetic informationin life and health insurance and in employment. Indeed, wedetect close links between the two (6.1).

We welcome the clear statement that genetic test resultsobtained from research will not be used by insurancecompanies. We would welcome assurance from the mainemployer groups, trades unions and professional bodiesconnected with occupational health and recruitment thatindividual genetic research results will not be considered inmaking employment decisions about that person (6.19).

We consider the concept of “genetic discrimination” in somedepth. The Government asked HGC and the Disability RightsCommission to consider the need to amend the DisabilityDiscrimination Act 1995. We have concluded that there arelegal and pragmatic reasons why this would not adequatelyaddress concerns. In the light of our recommendation onseparate legislation to address genetic discrimination,we recommend that no further consideration be givento amending the Disability Discrimination Act toinclude protection for those who have a pre-symptomatic genetic condition (6.31).

There is an opportunity to consider “genetic non-discrimination” legislation as part of the review of geneticinformation in employment (due in 2005) and during themoratorium on the use of genetic information in insurance(to 2006).

We recommend that the Government consider in detailthe possible need for separate UK legislation to preventgenetic discrimination and that this evaluation formpart of a long-term policy review on the use ofpersonal genetic information in insurance andemployment (6.41).

In May 2001 we published interim recommendations callingfor a moratorium on the use of genetic information ininsurance. In October 2001, the Government and theAssociation of British Insurers (ABI) responded to the Houseof Commons Science and Technology report on genetics andinsurance. We welcome the Government response and actiontaken by the Association of British Insurers and theopportunity that this offers during the five year moratoriumfor a fuller discussion of the use of genetic information ininsurance underwriting (7.7).

Our interim recommendations noted that the use of familyhistory information by insurers presents particular difficulties.We have considered the arguments on both sides and notedthe work of the insurance industry and of others.

We do not at present recommend that the insurancemoratorium should be extended to the use of familyhistory information (7.16).

We further recommend that in reviewing its criteria forjudging applications the Genetics and InsuranceCommittee (GAIC) consider the evidence which theinsurance industry uses to justify its use of familyhistory evidence to set insurance premiums (7.17).

We recommend that the Government and insuranceindustry should continue to fund independent researchon genetics and family history. We also believe thatthe ABI should encourage their member companiesto consider publishing the results of their own researchand analysis in peer-reviewed journals (7.18).

We note a possible consumer perspective that people withno adverse family history should be able to make useof their genetic information to obtain lower premiums. This‘preferred-life’ underwriting is superficially attractive butwe recommend that it should not be introduced into the UKinsurance market and note that the ABI have recommendedagainst this in their Code of Practice (7.27).

The expanded GAIC is well placed to both receive andinvestigate reports that some people are advised to havea genetic test in order to obtain cheaper insurance.However, we also recommend that research becommissioned to establish the extent to which patientsraise insurance considerations during consultations thatprecede genetic tests (7.28).

In our view, the effect of [data protection] provisions is toemphasise the importance of ensuring that insurancecompanies request only the minimum amount of specificinformation about the applicant’s family history that isneeded to make an insurance underwriting decision (7.36).

Because many genetic conditions are rare and complex,people often have better knowledge of their own conditionthan a prospective insurer. Arranging affordable insurancemay require considerable effort on the part of that person.

We recommend that the Government promote themechanisms set out in the 1999 White Paper “Modernmarkets – confident consumers” to help establishconsumer information partnerships which couldprovide access to affordable insurance for those witha genetic condition (7.50).

We welcome the Government’s commitment that GAIC willreview the criteria for judging applications to use genetic testinformation in insurance. We offer some comments based onresponses to our consultation. We look forward to a closerworking relationship with the reformed GAIC and wouldwelcome both formal and informal opportunities forcollaboration (7.56; 7.59).

We highlight some of the risk pooling models that have beenproposed by insurance industry experts.

We recommend that during the period of themoratorium risk pooling and other models shouldbe explored further by independent experts fromthe actuarial profession, the insurance industry andthe genetics community (7.64).

We intend to continue to play a role in the debateand review of genetics and insurance and we shallrecommend to Government a programme whichwill encompass this (7.65).

Personal genetic information may be used by an employer tomake decisions about people’s susceptibility to hazards inthe workplace. It may also be use to determine whetheremployees may pose a safety risk to others or whether theymay have long periods of illness or inability to work onmedical grounds. Increasingly genetic information may alsobe used in decisions about access to employee benefits suchas occupational pensions, private health insurance and otherforms of insurance. Although we recognise thesepossibilities, we conclude at present there is no evidence inthis country of any systematic use of predictive personalgenetic information in employment (8.9).

We generally believe that – in accordance with the principleof respect for persons – employers must not demand that anindividual take a genetic test as a condition of employment(8.15).

At present, we conclude that given the current uncertaintiesabout interpreting genetic information, at present it may bemore appropriate to monitor the health of a person by other,more direct, means (8.18).

We do not consider that a body like GAIC should beestablished at this stage to decide whether particular genetictests are relevant for employment purposes. However, wewish to give more thought to the broader ethical and social

implications of this issue, with a view to advisingGovernment in the future.

We would therefore encourage a voluntary undertakingby employers or other groups to inform HGC of anyproposals to use genetic testing for health and safetyor recruitment purposes (8.19).

The proposed review of the use of personal geneticinformation in employment by 2005 is timely, but theseissues should be addressed before then.

We recommend that a joint Committee be formedto monitor developments in genetic testing andemployment and that this committee should includerepresentatives from HGC, the Health and SafetyCommission, the Disability Rights Commissionand other interested parties (8.23).

The Information Commissioner has consulted on a draftCode of Practice on the use of personal data withinemployer/employee relationships. We would suggest thatthe Commissioner clarify that the relevant parts of this codecover both the results of previous genetic tests and otherpersonal genetic information (such as a family history ofa genetic condition) (8.26).

We believe that any future discussions on the use ofgenetic information in private insurance should alsoconsider the wider implications for employment-benefit schemes that are based wholly or partly onfinancial products that are based on the recognisedprinciples of private insurance underwriting (8.27).

Forensic uses of genetic information

The ability to generate DNA fingerprints and the resultantdevelopment of national forensic DNA databases is apowerful tool for crime detection. We comment on theimplications of forensic DNA use and on the views put to us

during our consultations. We note the significant changesintroduced by the Criminal Justice and Police Act 2001relating to the retention of DNA profiles and samples.

Given that the Scottish legal position differs from that whichapplies in England and Wales, we recommend thatconsideration should be given to the adequacy ofarrangements to ensure that Scottish DNA profiles andsamples on the UK National DNA Database are handledin accordance with the provisions of the relevantScottish legislation (9.15).

We note public concern about extending DNA profiling torelatively trivial offences.

We would urge the Government to promote a greaterdegree of public dialogue about the justification for theapparent increase in the range of offences for whichsamples may be taken (9.20).

Such dialogue may also serve to maintain, and possiblyimprove, public confidence in the National DNA database.

The recent legislation affects the arrangements for samplesgiven voluntarily to eliminate a person from a crime inquiry. Itincludes separate consent procedures for participation in theelimination screen and to have the profile retained on theNational DNA database. This latter consent cannot be revoked.

We recommend that the Home Office guidance and policeconsent forms clearly set out the important differencesbetween the two consents that are being obtained. Wherepossible the obtaining of consent to provide the initialelimination sample should be separated physically and/or temporally from consent to retain the sample andprofile (9.26).

We took note of concerns about the oversight arrangementsfor the National DNA database. The Government hasindicated that it will consider the idea of an independentbody to oversee the samples and that it will also conduct a

review aimed at improving the security and efficiency of theNational DNA Database.

We recommend that, at the very least, the Home Officeand Association of Chief Police Officers establish anindependent body, which would include laymembership, to oversee the work of the National DNADatabase custodian and the profile suppliers (9.32).

We also draw a clear distinction between the retention of theDNA profile (the “DNA fingerprint”) on a computer and theoriginal sample (the “CJ sample”) in a freezer. The latter maypotentially be retested and used in ways not consideredwhen it was originally taken. We welcome the Government’swillingness to consider an independent oversight body forCJ samples.

We recommend that any review leading to theestablishment of such a body should have a sufficientlybroad remit to consider first whether or not CJ samplesshould be retained (9.39).

We note the important research into the use of DNAtechniques in crime detection. This includes ways ofidentifying commonplace characteristics so that in the futurea “genetic photo-fit” could be built up from a sample left atthe scene of a crime.

We recommend that in the short-term the Home Officeand Forensic Science Service establish an independentresearch ethics committee to approve such research(9.45).

It appears to us that there is a clear distinction betweenusing DNA for comparison or identification purposes (whichthe public broadly accepts) and using it to predict thecharacteristics of a person. We take the view that the publicmight have concerns about such uses.

We therefore recommend to the Government that anyproposal to use sensitive personal genetic informationfor forensic purposes should be subject to a full public

debate in order to examine the ethical, consent andconfidentiality issues (9.48).

We share general concerns about police access to researchgenetic databases, both from an ethical and a scientific pointof view (as this may affect the range of volunteers who areprepared to participate in such research).

We therefore recommend that consideration be givento legal means of preventing access to biomedicalgenetic databases by police and other law enforcementagencies (9.55).

DNA parentage testing

We review the increasingly widespread use of DNArelationship testing – commonly called paternity testing.

A large amount of paternity testing is done for Governmentpurposes, by bodies such as the Child Support Agency orthe Home Office. We recommend that there be clearofficial guidelines for the use of DNA testing for childsupport and immigration control purposes, and that theseshould reflect the concerns about the intrusiveness andpotential consequences for family members of DNAparentage testing. In our view, such guidelines shouldstate that DNA testing should only be used in situationswhere no other evidence is available (10.20).

Private paternity testing, such as that commissioned for civilcourt cases, may fall under a voluntary UK Code of Practiceon Genetic Paternity Testing Services. However, the Code ofPractice is not legally enforceable and does not apply topaternity testing services offered by overseas providers. Werecommend that the effectiveness and relevance of theCode of Practice on DNA Paternity Testing should beconsidered as part of our review of direct offering tothe public of genetic testing services (10.27).

You can get copies of the full report and the summary by writing to:

PO Box 777London SE1 6XH

Or by faxing: 01623 724524

Or by emailing: [email protected]

We drew on a wide range of evidence during our review of personalgenetic information. This evidence and the full and summary report are

availlable on our website www.hgc.gov.uk/insideinformation/.

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