Confidential: For Review Only · Professor of clinical genetics, faculty of medicine, c/o MP105, Level G, The Princess Anne Hospital, Southampton SO165YA, UK. ... available to prevent

Confidential: For Review Only

Alerting relatives about genetic risks:

Health professionals’ duties, responsibilities and the limits of confidentiality

Journal: BMJ

Manuscript ID BMJ.2017.041512.R1

Article Type: Opinion

BMJ Journal: BMJ

Date Submitted by the Author: 02-Nov-2017

Complete List of Authors: Lucassen, anneke; univ southampton, clinical genetics Gilbar, Roy; Netanya Academic College, Law

Keywords: genetic information, disclosure, confidentiality, family members, autonomy

https://mc.manuscriptcentral.com/bmj

BMJ

Confidential: For Review OnlyAlerting relatives about genetic risks:


Anneke Lucassen, Roy Gilbar

Anneke Lucassen

Professor of clinical genetics, faculty of medicine, c/o MP105, Level G, The Princess Anne

Hospital, Southampton SO165YA, UK.

Roy Gilbar

Senior Lecturer, School of Law, Netanya Academic College, 1 University Road, Netanya 4223587,

Israel; Honorary Senior Lecturer, School of Law, University of Leicester, Leicester, UK.

Corresponding to: Roy Gilbar, email address: [email protected]

Abstract

The article raises an issue which clinicians in genetic medicine increasingly face, namely whether

and when one patient’s genetic information can or should be used to benefit relatives. This issue

raises questions about the scope of principles such as confidentiality and autonomy and about

clinicians’ responsibilities to others such as family members and the public. The tensions in

balancing patient confidentiality and prevention of harm to others are well described in for example,

sexually transmitted diseases, yet in genetic practice the prevailing discourse remains one that gives

prominence to patient confidentiality. At a time where genetic technologies are rapidly advancing

and ventures such as the UK’s 100,000 genome project start producing results, we argue that an

alternative relational approach, which can preserve medical confidentiality yet allow relatives

access to genetic information that is relevant for them, needs much more widespread adoption.

Page 1 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


1

Alerting relatives about heritable risks:


Introduction

Consider the following case: John has been recently diagnosed with Huntington's Disease (HD) a

serious hereditary condition which causes dementia and involuntary movements. There is as yet

no cure and early death (40s-60s) is likely. An affected individual has a 50% chance of passing the

condition on to any children they have. Those who inherit the causative mutation (a triplet repeat

or ‘stutter’ in the DNA), will likely develop the disease in mid-life, or earlier if the stutter has

enlarged, which can sometimes happen if inherited paternally. John’s daughter, Clare, knows her

father is ill but not that its cause is heritable. She is pregnant and mentions this to John’s clinicians.

They wonder whether she has a right to know about his diagnosis because they know the

condition is heritable, but John worries about Clare and that she might terminate her pregnancy.

He therefore refuses consent for Clare to be told.1

This scenario, recently discussed by English courts in ABC vs St George’s Healthcare NHS Trust,

raises an issue which clinicians increasingly face, namely whether, and how, genetic information

discovered in one patient might be communicated to relatives at risk of the same inheritance but

as yet be unaware of this. Tensions around confidentiality and responsibilities to others are well

described in practices around, for example, sexually transmitted diseases (STDs), yet in medical

practice involving heritable risks the prevailing discourse remains one that gives prominence to

patient confidentiality, presumably because, until recently, there were few- if any- treatments

available to prevent or ameliorate the course of genetic conditions. Now that surveillance and

intervention strategies are available for those that know they are at risk, consideration of contact

tracing of relatives may need to be more in line with those for STDs. Furthermore, genetic

technologies have advanced significantly, and genetic/genomic testing is now entering

mainstream medical practice2 as well as being more available direct to the consumer

commercially. These developments mean that knowing if, or when, it might be appropriate to alert

others about risks - discovered through the testing of one person - becomes an issue for medical

practice in general.

Page 2 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


2

Confidentiality and its limits

General Medical Council (GMC) guidance emphasizes that confidentiality is usually the rule but

that disclosure to others might be made as an exception.3 Communication of information given in

confidence is generally only permitted if a patient consents to this, or if each of three criteria are

met: (1) a patient refuses to inform others, (2) an identifiable person (relative) is at serious risk of

harm, and (3) such harm might be prevented by disclosure.4

In STDs, disclosure might be justified in the interest of preventing transmission of a disease. In

genetics, transmission of a genetic factor to existing relatives will already have taken place (or

not) but the harm prevention is the access to, for example, surveillance or surgical treatments that

a relative would otherwise not know to access. Avoidance or termination of pregnancy (to prevent

transmission of a condition such as HD) might then also be considered harm prevention.

Hence, according to the GMC guidance, John’s doctors should have considered whether his refusal

to allow Clare to be told about her heritable risks could be overridden. If their conclusion was that

informing Clare would help her avoid serious harm, their disclosure would have been justified

despite John’s refusal. We do not suggest that this balancing exercise is easy, but it is important to

remember that John had no absolute right to veto disclosure.

What type of information is confidential?

The British Medical Association states that identifiable patient information, “whether written,

computerised, visually or audio recorded or simply held in the memory of health professionals is

subject to the duty of confidentiality.”5 This includes clinical information about diagnosis or

treatment; photos or other images of the patient, and the details of the doctor and the clinics the

individual attends. The Data Protection Act 1998 defines personal data as data which “relate to a

living individual who can be identified by those data”, or by those data together with other

information which is in the possession of a data controller (e.g. clinician). The Act considers health

record information as “sensitive personal data”, which can be disclosed only if certain conditions

are met (e.g., patient consent).6 The forthcoming European General Data Protection Regulation

defines personal data as “any information relating to an identified or identifiable person,” and

perceives genetic information as sensitive personal data.7 However, it is important to highlight

that 99.9% of the genetic code is shared by all humans so this cannot be considered sensitive, just

Page 3 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


3

as it cannot be considered sensitive to say that a person has lungs or kidneys. It is the differences

in genetic codes that lead to potential sensitivity. Since biological relatives share a greater

proportion of their genetic code, a BRCA1 mutation for example, may not identify any particular

individual, but rather a group of related individuals who have a family history of breast and

ovarian cancer.

This suggests that alerting relatives that their family history of a condition means they too might

have an increased chance of developing it, does not breach confidentiality because no identifiable

information is communicated in such a statement, even if genetic findings in one person first led to

that conclusion.

This led us previously to argue that relatives’ interests in the patient’s genetic test results should

be taken into account, and to amend disclosure practices accordingly.8-9 This has been endorsed

in clinical practice guidance,10 yet has clearly not gained wide enough acceptance by clinicians to

be applied in John and Clare’s case.11

Family history information and confidentiality

John is known to have a family history of dementia, and indeed some of his relatives had the

movement disorder characteristic of HD before they died. Clare remembers John’s mother having

dementia at an early age. John’s clinicians used this information to consider a diagnosis of HD in

John. Clare observes the symptoms of HD in John and asks his clinicians whether they have

implications for her. John’s clinicians are now in a difficult position. They need to place a high

value on keeping his clinical information confidential, but can they tell Clare her family history

may have important consequences for her without breaching John’s confidentiality?

We suggest that in these situations clinicians could say to relatives like Clare “your family history

suggests there might be an inherited predisposition in your family” because John has refused

disclosure of his information, not of information that is not unique to him. Clare could then seek

further advice about whether testing might be available to her, without any breach of John’s

confidence. Test results in Clare might lead her to infer things about John, but this - we argue - is

not the same as a breach of his confidence because the information discovered is not about a

particular individual. If Clare concludes her father has the same genetic finding, this does not

Page 4 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


4

reveal confidential information about John that she is not already party to. Since family members

share the same gene pool, certain inferences about their genetic status will be inevitable

regardless of clinicians’ disclosure.

In some cases it will not be possible to use a family history to suggest to a relative they are at risk:

clinical findings and their heritable explanation may only be evident in one person, for example.

Even here we argue, alerting relatives to their risk is not the same as breaching confidentiality,

because it is not unique information that is being disclosed.

We do not underestimate the difficulties of implementing such an approach in a systematic way.

Defining a threshold of risk, severity of the condition, or perhaps actionability, would need to be

considered. Furthermore, practical issues around communicating with individuals who might not

be easy to find, or want to receive such information, would need to be considered. For now we

simply posit that it is possible to alert relatives about their genetic risks without breaching the

confidences of the patient in whom a heritable tendency was first identified. This does not equate

to a duty to contact all, but to a responsibility to contact some, some of the time.

Empirical evidence about familial communication

Communication of genetic information often happens within families. Studies suggest that a

patient’s explicit refusal to inform relatives is rare,12 although this does not mean that appropriate

communication always takes place. There are many reasons why patients find such

communication difficult, including lack of contact, not finding an appropriate time, or not

understanding the importance of so doing.13 Many genetic services will offer ‘family letters’ for

patients to pass on to relatives but evidence suggests these are not as effective as clinical services

might hope, for a variety of reasons.14

Other research suggests that both patients and clinicians within genetic services already

distinguish between personal and familial information on some level and have no principal

objection to disseminating familial genetic information where the benefit in disclosure is high in

terms of surveillance or treatment options.15 Patients consider that their relatives should have the

opportunity to receive familial genetic information relevant to them and consider reproductive

choices as a treatment option.16

Page 5 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


5

Professional guidelines and the law

In the UK, the GMC sets the professional standards of good medical practice, so doctors

transgressing the guidelines “put their registration at risk.”3 The GMC considers disclosure to

others without consent is justified “if failure to do so may expose others to a risk of death or

serious harm.” For genetic information, the GMC says that if a patient refuses to disclose relevant

information to relatives, clinicians need to balance their duty to make the care of their patient

their first concern against their duty to help protect another person from serious harm. The GMC

suggests that doctors should not reveal the patient’s identity patient when contacting relatives

and advising them about the risks they face, thus acknowledging that familial and individual

information might be seperable.3

English law, like professional guidelines, imposes a duty of confidentiality on clinicians but grants

discretion to warn relatives.17 Whereas the GMC can initiate disciplinary actions against doctors

who transgress guidelines, the courts can direct clinicians to pay compensation to patients for

breaching confidentiality.

The GMC if approached by Clare might conclude that John’s clinicians failed to adequately consider

GMC guidance on confidentiality. However, if Clare wants compensation, then the courts first need

to examine whether her father’s clinicians owed her a duty of care.1 If they did, then the question

is whether they breached such a duty, and whether their breach caused the harm the claimant

experienced.

The assessment of whether clinicians owe a duty of care (to inform, in this context) to particular

relatives needs to meet three criteria: First, could they have foreseen that their (in)action might

cause harm; second, could they have identified a particular relative as being at risk, and thirdly, is

it ‘fair, just and reasonable’ to impose such a duty?18

The ABC case

ABC is the first case in English law to deal with a relative’s claim in genetics.19-20 The Court of

Appeal held that, depending on the circumstances of a case, it may well be fair, just and reasonable

to impose a legal duty on a clinician to inform a patient’s relatives about their increased genetic

risk. At trial, the court would need to examine whether the treating clinician met the reasonable

Page 6 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


6

professional standard when respecting a patient’s refusal to disclose genetic status to his

daughter. The court emphasised that relatives’ interests in autonomy and disclosure are no less

important than a patient’s rights to autonomy and confidentiality and that a clinician’s duty

towards relatives “would serve to ensure that a proper balancing exercise is performed by the

clinician.” The court held that the law in this area should reflect the professional obligations

clinicians already hold towards relatives.1

Implications for clinical practice

The Court of Appeal’s decision in ABC has significant implications for a potential duty of care

towards relatives. Although the court held that such a duty might be limited to genetic practices,

this may not be so limiting as genetics becomes part of every branch of medicine. Clinicians

treating patients whose conditions have a strong inherited component now need to consider not

only their patients’ wishes and interests but also those of at-risk relatives who may in turn

become patients to be advised about surveillance or risk reducing measures.

The ABC case therefore guides clinicians to use their professional judgment and consider whether

harm might be prevented by disclosure of [potentially] familial rather than personal genetic

information. What will now need to be determined in cases where patients explicitly refuse

disclosure to relatives, is how to fulfil this duty, namely how, when and by whom might Clare be

informed, and which other relatives such a duty also applies to.

Conclusions

John’s clinicians could have alerted Clare about her potential risks using information that was

already in the public domain and through which no confidential information about her father

would have been betrayed. Cases like ABC are helpful in alerting clinicians to their existing ability

to use their discretion in informing relatives and promoting debate about when it is appropriate to

do so.

2198 words to here

Page 7 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


7

Summary

• Advances in genetic technologies and their adoption in all areas of medicine mean that questions about

communication of heritable risks to family members will arise more frequently.

• At the same time, dissemination of information to those who are not currently patients is often

regarded as outside the bounds of a normal legal duty of care imposed on clinicians. Indeed, clinicians

often consider that preservation of confidentiality prevents them from disclosing genetic information

to at-risk relatives unless there is explicit consent to do so.

• A recent UK court case served to highlight that clinicians need to weigh in the balance the potential

harms of disclosure with the potential benefits of doing so. We argue that in many cases appropriate

alerting of relatives can take place without a breach of confidence of clinical information.

• An explicit acknowledgement by the courts that personal clinical and familial genetic information can

be legitimately distinguished is helpful for emergent clinical genetic/ genomic practice.

Contribution and Sources

The authors contributed equally to the article. It arose out of a series of discussions about the

topic at clinical and academic meetings. The authors gratefully acknowledge discussions with

many parties but in particular those with Professor Michael Parker, Ethox Centre, University of

Oxford and Genethics UK (www,genethicsUk.org).

Prof. Anneke Lucassen is Professor of Clinical Genetics at the University of Southampton, and a

Consultant in clinical genetics at the Wessex regional genetic service. She chairs her hospital’s

clinical ethics committee and – with others – runs a national forum for discussion of difficult

ethical and legal issues arising in genetic practice- Genethics UK. She has published on the familial

aspects of genetic information and the means by which this is, or is not, communicated to those to

whom it is of potential interest.

Dr. Roy Gilbar is a senior lecturer in the school of law, Netanya Academic College, Israel and an

honorary senior lecturer in the University of Leicester’s school of law. His research examines the

legal and bioethical aspects of genetic practice. He has published on legal and bioethical aspects of

confidentiality and disclosure of medical information to family members. He established, together

with others, an Israeli Genethics Forum.

Conflict of interest: We have read and understood BMJ policy on declaration of interests and

declare that we have no competing interests.

The Corresponding Author has the right to grant on behalf of all authors and does grant on behalf

of all authors, an exclusive licence (or non exclusive for government employees) on a worldwide

basis to the BMJ Publishing Group Ltd ("BMJ"), and its Licensees to permit this article (if accepted)

to be published in The BMJ's editions and any other BMJ products and to exploit all subsidiary

rights, as set out in our licence.”

Page 8 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


8

References

1 ABC v St. George’s Healthcare NHS Trust [2015] EWHC 1394 (QB); [2017] EWCA Civ 336 (CA). 2 Chief Medical Officer annual report 2016: Generation Genome https://www.gov.uk/government/publications/chief-

medical-officer-annual-report-2016-generation-genome (last accessed 19.8.2017 3 General Medical Council. Confidentiality: Good practice in handling patient information. General Medical Council, 2017.

4 Beauchamp T, Childress J. Principles of biomedical ethics (Oxford University Press, 2013).

5 British Medical Assoctiation, Confidentiality, https://www.bma.org.uk/advice/employment/ethics/medical-students-

ethics-toolkit/9-confidentiality (last accessed 24.10.2017). 6 The Data Protection Act 1998, https://ico.org.uk/for-organisations/guide-to-data-protection/key-definitions/ (last

accessed 1.11.2017). 7 The General Data Protection Regulation, http://eur-lex.europa.eu/legal-

content/EN/TXT/PDF/?uri=CELEX:32016R0679&from=EN (last accessed 1.11.2017). 8 Parker M, Lucassen AM. Genetic information: A joint account? BMJ 2004; 329: 165-167;

9 Gilbar R., Communicating genetic information in the family: The familial relationship as the forgotten factor (2007) 33(7)

Journal of Medical Ethics 390-393. 10

The Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. Consent and

confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information. Report of the Joint

Committee on Medical Genetics, RCP, RCPath, 2011. https://www.rcpath.org/resourceLibrary/consent-and-confidentiality-

in-genetic-practice.html (last accessed 19.10.2017) 11

Dheensa S., Fenwick A., Shkedi-Rafid S., Crawford G., Lucassen A., Health-care professionals’ responsibility to patients’

relatives in genetic medicine: A systematic review and synthesis of empirical research (2016) 18(4) Genetics in Medicine

290-310. 12

Clarke A., Richards, M., Kerzin-Storrar, L., Halliday, J., Young, M.A., Simpson, S.A., et al., Genetic professionals’ reports of

nondisclosure of genetic risk information within families’ (2005) 13(5) European Journal of Human Genetics 556-562. 13

Suthers GK., Armstrong J., McCormack J., Trott D., Letting the family know: Balancing ethics and effectiveness when

notifying relatives about genetic testing for a familial disorder (2006) 43 Journal of Medical Genetics 665-670. 14

Dheensa S., et al, Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with

patients and healthcare professionals (2017) Journal of Genetic Counseling (In press), JOGC-D-17-00149 R1. 15

Pentz RD, Peterson SK, Watts B, et al. Hereditary nonpolyposis colorectal cancer family members’ perceptions about the

duty to inform and health professionals’ role in disseminating genetic information. Genet test 2005; 9(3): 261-268. 16

Dheensa S, Fenwick A, Lucassen A. ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about

consent, confidentiality and information sharing in genetic medicine. J Med Ethics 2016; 42: 174-179. 17

Laurie GT, Harmon SHE, Porter G. Mason & McCall Smith’s Law & Medical Ethics (Oxford University Press, 2016). 18

Caparo v Dickman[1990] UKHL 2, [1990] 2 AC 605. 19

For US cases see: Safer v Pack 677 A. 2d 1188 (1996); Pake v Threlkel 661 So 2d 282 (1995). 20

For a legal commentary: Gilbar R., Foster C., It’s arrived! Relational autonomy comes to court (2017) Medical Law Review

(forthcoming), https://doi.org/10.1093/medlaw/fwx044.

Page 9 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


November, 2017

Dear BMJ editors,

We are grateful for your offer to work with us on revising our manuscript (ID BMJ.2017.041512)

entitled "Alerting relatives about genetic risks: Health professionals’ duties, responsibilities and

the limits of confidentiality".

We have restructured the paper in line with your feedback and hope it is now much clearer. Below

are our specific responses to your points.

Your comment: “The main argument about how doctors manage genetic information that may

affect future generations is important and topical. We would like to work with you towards

publication, but feel that there are still some areas where the discussion about confidentiality could

be explored in more depth, acknowledge more of the counterview, and go beyond the single case

discussed in the paper”

Response: We are glad you consider this important and topical. We have tried to incorporate

greater depth, extension to other cases, and reflect the counterview.

Your comment: “The case used to illustrate your argument provides a useful topical hook. We felt

that the issues around confidentiality as they relate to this case could be expanded, particularly to

discuss whether relatives will be able to use even the small amounts of information to work out

confidential information. We are still not convinced that relatives will not be able to work this out”

Response: We now explicitly address the issue of what is confidential information in this context,

addressing the BMA’s guidelines, the Data Protection Act 1998 and the forthcoming European

Data Protection Regulation. Our argument is that relatives might be able to ‘work out’ that their

family history of a condition is due to an inherited factor, but that this in itself does not reveal any

clinical information about others. Indeed it is using information that is already known about or in

the public domain. Clare knew about her father’s symptoms and her family history. No

confidential information is breached by telling her that this family history might be inherited.

Our argument is that it is possible to keep any clinical information that is confidential (i.e., any

particular clinical details that Clare is not already aware of), but that any familial tendency can be

‘separated’ from clinical confidences in order to alert relatives appropriately.

We have tried to align this to sexually transmitted diseases (STD) disclosure practices (in the

limited word count available). In STDs a person contacted might be able to work out details about

a specific person through the fact of the contact, but in genetics telling specific people they are at

risk of something is not the same as breaking the confidence of the person who highlighted that

risk in the first place.

Page 10 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


Your comment: "A key issue is whether or not suggesting the daughter seek genetic testing

warrants a breach of confidentiality. The authors suggest it does not. However, will readers be

convinced of this argument? The family members being tested would have to be counselled

regarding the condition in question, the likelihood that they / any future offspring may be affected,

and in the age of the internet, it is very difficult to believe that someone who wants to find out how

a condition is transmitted would not be able to do so - the first line of the second paragraph of the

Wikipedia article on Huntington’s disease reads: ‘HD is typically inherited from a person’s

parents’."

Response: We agree that Clare, if tested for HD, may be able to ‘work out’ she inherited it from

her father but this is not the same as breaching his confidence. She already knows he had

symptoms of HD. In the ABC case his symptoms were in the public domain through a murder trial.

In other cases, a relative might know that several family members have breast or ovarian cancer.

No confidential information needs to be disclosed to tell that relative that this known family

history might be explained by an inherited factor.

Had Clare, in our example, not asked her father’s doctors, but asked her GP for a referral to a

genetic service for testing, she would indeed have been counselled about possible heritable

conditions that explain this family history, and their inheritance patterns, but this would not have

revealed any confidential information about others. When it comes to genetic testing, we suggest

that it is inevitable that people will make inferences about whom they have inherited something

from, or not, but such inferences (even if aided by clinicians) do not constitute a breach of

confidence. We hope that referring to familial inheritance – and highlighting that some genetic

data does not point to one particular individual, even if first identified in them- clarifies this

concern.

We agree that readers may need to be convinced, and we hope to have gone some way to doing

so, but we also want to stimulate debate. Familial information in an age of medical care where

‘the patient is in front of you’ will need more widespread consideration than we are able to give in

2200 words, but we hope that our paper will help to stimulate this and thus also be widely cited.

Your comment: “You say that ‘if the clinical findings and their heritable explanation are only

evidence in one family member, then this might be a good reason to be more cautious about

disclosure’ - perhaps you could be clearer about the potential consequences here? Would it

represent a breach in confidentiality? What advice would you give to readers about what to do in

this scenario?”

Response: We have changed this section to be clearer. We do not think that inferences made

about inheritance constitute a breach of confidence because most people know they inherit

genetic material from their mother and father and that any germline mutation they are tested for

is likely to have come from a parent. Our advice is not different from the advice given by the GMC-

to consider carefully not only the interests of the patient in confidentiality but also those of the

relatives in disclosure.

Page 11 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960


Your comment: “We also thought some discussion about other scenarios might be useful, if

anything to illustrate how relational approaches work for diseases that are perhaps less

identifiable than Huntingdon's. We also wondered what ethical issues might arise when an

individual has knowledge about their disease or carrier status, but has capacity and states they do

not consent to a relational approach? Is their consent necessary?”

Response: We have now referred to other examples such as BRCA1 in the text. We also outline

how relational approaches although adopted in RCP guidance have not yet been implemented in

widespread practice. Indeed we want out paper to highlight this because many doctors will not yet

have faced such a scenario, but will be likely to in the future. We agree that the issue is slightly

different if a person knows nothing about their family history, or of any symptoms in any person,

but if this is the case, they will also be less likely to infer clinical information about others. For

example, if I were to alert someone (via their GP most likely) that they were at increased risk of a

BRCA1 mutation, this would not allow someone who knows nothing about their family to infer

anything about particular relatives.

Your comment: “We also wondered if you could provide some general context - are cases like the

one described here the exception or the rule? On the whole are families willing to share this

information?”

Response: We now refer to empirical research that highlights that patients usually share genetic

information with their relatives and expect their health professionals to help with this. This

research also highlights an interesting discrepancy- that many health professionals assume

(wrongly) that patients would not want them to do so. We do not have the space in this paper to

go into this research in detail, but make it here as interesting observation to highlight that if

clinicians tie themselves in knots worrying about confidentiality they may not always be serving

their patients as well as they could. All the more reason to debate whether John’s clinicians were

correct to think that confidentiality prevented them from alerting Clare to her risks. The case

described here is indeed the exception to the norm. But as genetic testing becomes more

widespread we think it timely to address: it is often the exception that helps to tease out best

future practice, and that consume the most health service time!

Your comment: “We would also like you to acknowledge what has changed (if anything) in practice

since you last touched upon these issues in The BMJ in 2004

(http://www.bmj.com/content/329/7458/165). Is the relational approach (or joint model) in use?”

Our response: We have rewritten this section and addressed this point in the text relevant

supported by references number 8-11.. In this paper we are moving beyond a relational approach

that argues the default position in genetics is different [sharing familial information as a rule

rather than as an exception] to saying that in many cases alerting relatives of their increased

genetic risk is not a breach of confidence at all. We also refer to the Court of Appeal’s recent

decision in ABC which may have significant implications for the practice of clinicians beyond the

area of clinical genetics. Finally, we stress the point also made by the court that the autonomy of

relatives is as worthy of respect as that of patients.

Page 12 of 12


BMJ

123456789101112131415161718192021222324252627282930313233343536373839404142434445464748495051525354555657585960

Documents

Confidential: For Review Only · Professor of clinical genetics, faculty of medicine, c/o MP105, Level G, The Princess Anne Hospital, Southampton SO165YA, UK. ... available to prevent