NSW Genetic Health Guidelines - Part C: Considerations when deciding whether to disclose without consent

2.    CONTEXT FOR DECISION-MAKING

2.1   Meeting individual needs

2.1.1  Communication

Effective communication from the first consultation may help the patient to fully understand the implications of the genetic information being discussed and avoid a situation where he or she refuses consent to disclose genetic information to genetic relatives. Good communication can also help the health practitioner to understand and respect the patient’s decisions about disclosure.

NHMRC guidelines on communicating with and providing information to patients (NHMRC 2004a; 2004b) identify obstacles (e.g. anxiety about the condition, family discord) that may make the patient less able to take in or provide information and make decisions. They also identify obstacles that may prevent the health practitioner from fully appreciating the views of the patient.

Even where there are obstacles, better communication can be fostered through:

  • establishing rapport and using active listening techniques;
  • helping patients to express themselves and to understand and retain the information given;
  • using plain language free of clinical terms and reinforcing discussions with written and other relevant materials and services (e.g. video, websites, advice on relevant support groups, interpreters); and
  • considering the environment and length of consultation required before communicating potentially distressing news.

Patients will differ in the amount of information and support they require and there may be particular difficulties in communicating with patients with dementia or cognitive difficulties. The pace of information provision should be determined by each patient’s needs and the particular situation.

2.1.2  Cultural and lifestyle factors

Health practitioners see patients from a range of ethnic, cultural and socio-economic backgrounds, and should aim to ensure good communication regardless of the social or cultural background of patients. As well as following general principles of good communication, additional strategies that may be helpful include (NHMRC 2004a):

  • asking questions to appreciate the patient’s understanding of health and disease;
  • establishing an environment that welcomes and affirms each patient regardless of background;
  • negotiating with the patient about using the assistance of agents such as patient advocates, family members, pastoral care workers or spiritual leaders; and
  • seeking advice from community agencies that understand and advocate for patients.

Qualified interpreters and culturally appropriate materials should be available for people from culturally and linguistically diverse backgrounds. Where this is not possible, telephone interpreter agencies can
provide relevant services. However, not all cultural groups welcome the involvement of non-family members in such circumstances and health practitioners need to be aware of and sensitive to this possibility (NHMRC 2004a).

Effective communication with Aboriginal and Torres Strait Islander patients requires consideration of cultural factors such as (NHMRC 2005):

  • beliefs that the concept of a family differs from that of genetic connections;
  • the recognition of both “blood” and “skin” relationships;
  • the complexity of Aboriginal and Torres Strait Islander lore, which affects communication within families and communities;
  • the importance of family and community involvement in decisions about health care;
  • a holistic view of health that includes cause and effect arising from the body, the spiritual, the land and dreaming;
  • the high degree of mobility among Aboriginal and Torres Strait Islander peoples; and
  • the unique issues relevant to people that live in remote areas of Australia.

Involving an Aboriginal and Torres Strait Islander Hospital Liaison Officer and/or Health Worker, with the patient’s agreement, can help to ensure that communication takes place in a culturally appropriate way and that the patient’s understanding of the term genetic relative is clear. In cases where disclosure without consent is a possibility, advice from senior community members or Elders may assist in decision-making about the appropriate course of action after careful consideration. Initial contact with Elders should be made with discretion ensuring protection of the individual’s privacy.

NSW Family and Community Services has produced a practical resource – Working with Aboriginal people and communities for all departmental and non-government organisation staff to improve cultural awareness and responsiveness to the needs of Aboriginal people and communities. Health practitioners may find this resource useful in understanding the cultural and historical factors that need to be acknowledged when interacting with Aboriginal people[1].   

Footnote

[1] Accessible at: http://www.community.nsw.gov.au/docswr/_assets/main/documents/working_with_aboriginal.pdf

2.2    Understanding the situation

2.2.1  Settings

With the increasing use and utility of genetic testing, there is a widening range of settings in which genetic information is discussed. Settings relevant to these Guidelines include (but are not limited to) private hospitals, specialists’ private rooms and general practice. Genetics services and familial cancer units are ideally positioned to deliver pre and post-test counselling and involve at-risk family members as necessary. Outside these settings, the advice of other health practitioners may need to be sought.

2.2.2  Diagnostic and predictive testing

The results of genetic tests are not always straightforward, which can make them difficult to interpret and explain. The degree of uncertainty will affect discussion of the implications of the results for patients and their genetic relatives. Family history and experience are also important in determining how an individual will react to the results of genetic testing (Evans et al 2001).

  • Diagnostic testing – This is done for patients who have clinical signs of disease to confirm or rule out a suspected genetic condition. While a positive result confirms a clinical diagnosis, it still cannot accurately predict the exact course of the disease, and in some situations, the exact phenotype.
  • Predictive testing – While some heritable diseases are caused by changes in specific genes, most are caused by the interaction of multiple genes with each other and with environmental factors (Petrila 2001). Predictive or pre-symptomatic genetic testing is done in well individuals to predict future risk
    of disease.

In some cases, a single test can reveal both predictive and diagnostic information. For example, a diagnostic test for fragile X syndrome in a boy with intellectual disability may reveal a full mutation in the fragile X gene that explains his disability. This result would also have implications for genetic relatives who may carry a pre-mutation that puts them at increased risk of developing a neurodegenerative disorder in later life. 

2.2.3  Nature of the genetic condition

The type of genetic information being discussed will vary widely, depending on the probability that someone with the mutation will develop the condition, whether the condition is serious or life threatening if it does develop, and whether it is preventable or treatable. The risk of a person developing the familial disease may vary for many reasons, including age, gender, and degree of relationship with an affected person. For example, genetic information may:

  • be considered by the health practitioner or the patient as being straightforward;
  • imply an increased risk but no certainty of developing a disease;
  • have serious implications for present and future generations;
  • concern a condition that is presently incurable but has serious manifestations of which the patient is unaware that can be ameliorated; or
  • have the potential to cause significant psychological harm.

The nature of the genetic condition will influence decision-making on the benefits of informing the patient’s genetic relatives because:

  • the more serious the condition, the more important it is to consider the implications for genetic relatives and how they should be alerted to the option of genetic assessment; and
  • the degree of risk for different genetic relatives will vary depending on the underlying condition and its penetrance as well as on the closeness of the relationship with the patient.

2.2.4  Family situation

Being aware of dynamics and pressures within a family can help health practitioners understand patients’ reactions when they find out that they have a genetic condition. While many patients wish their information to be available to help their genetic relatives, there are a number of reasons why patients or their authorised representatives may choose not to provide this information to relatives (Clark et al 2005), including:

  • cognitive change preventing the person from organising contact;
  • shielding others from distress, particularly in the absence of effective therapy;
  • breakdown of relationships within the family;
  • denial about the condition leading to unwillingness to admit the situation to others;
  • uncertainty about how or whenthey should share information with their genetic relatives;
  • thinking that a genetic relative is too unwell or busy to hear the news;
  • cultural, religious and spiritual factors;
  • fear of the potential for discrimination or stigmatisation if anyone else is told;
  • not understanding or acknowledging that others in the family may be at risk;
  • having the perception that genetic relatives would prefer not to know;
  • financial implications (e.g. information compromising subsequent applications for life or disability insurance, potential impact on superannuation); or
  • fear of establishing or revealing non-paternity, or non-maternity.

If the patient’s motivation is based on a lack of understanding or denial, exploring feelings and reactions may help him or her to reverse the decision not to share the information. However, when there is a long-term estrangement, patients may have completely lost touch with genetic relatives and they may be unable as well as unwilling to make contact.

2.2.5  Special situations                                                               

For some patients there may be an additional level of complexity in the decision-making process. This may be due to their limited understanding and consequent inability to give informed consent (for example, due to the impact of the disease process on memory or understanding, or maturity levels). Decision-making in situations involving adults who have impaired decision-making or children and young people is discussed more fully in Section 3.2.3. 

2.3    Ethics in decision-making

2.3.1  Ethical issues raised by sharing genetic information

In the context of these Guidelines, there are a number of ethical principles underpinning the practice of sharing genetic information, which are discussed briefly here and are the basis of the guidance given in Chapter 3. If a patient does not give consent for use or disclosure, there is likely to be conflict between the practitioner’s ethical obligations to the patient and to his or her genetic relatives, which needs to be considered as part of the decision-making process.

Justice

Health practitioners may feel a responsibility not only towards their patients but also to the relatives that share their genetic heritage, as genetic information can be seen to be relevant to a family rather than to an individual alone (Davey et al 2006). Clinical genetics practice aims to make the family rather than an individual the unit of care and offers access to the benefits of genetic assessment to family members when the patient gives consent for them to be contacted. The ethical principle underpinning this sharing of information is justice, which may be breached if one member of a family benefits from genetic assessment and at the same time is allowed to exclude others in the family from access to such benefits (Parker & Lucassen 2004).

Beneficience

The likely benefits to genetic relatives must justify any risks of harm or discomfort to patients if information is used or disclosed without their consent. Most guidelines in this area agree that a health practitioner’s minimum ethical responsibility is to tell patients about the implications of their genetic information for their family members, and to actively encourage patients to share this information with
genetic relatives (Forrest et al 2007). Discussion about the condition may help patients to understand their genetic risks and those of their genetic relatives (Forrest et al 2007), and assist in avoiding a situation where consent to use or disclose is withheld.

Respect

Respect for human beings is a recognition of their intrinsic value. Respect also requires having due regard for the welfare, beliefs, perceptions, customs and cultural heritage of individuals (NHMRC, ARC, AVCC 2007). In this context, confidentiality, which has a long-established tradition in medicine, is relevant to respecting the patient’s welfare. Ethically, this is based on the widely accepted view that competent patients shouldhave control over decisions concerning their medical care, including the right to decidewhat happens to information about them. A further justification for respecting patient confidentiality arises out of concern that breaching confidentiality can undermine trust in the relationship between health practitioners and patients (Parker & Lucassen 2004). The potential for harm to individuals, and ultimately society, from breaching patient confidentiality contributes significantly to the ethical dilemma faced by health practitioners when patients withhold consent to disclose information to their genetic relatives

2.3.2  Benefits and risks of sharing genetic information with genetic relatives

The process of informing genetic relatives about possible risk must be managed carefully. There are ethical issues to consider even when the patient gives consent.

The possibility that genetic relatives may not want to be informed about their risk is also a consideration. However, in most cases the health practitioner is unlikely to know the preferences of the genetic relatives.

However, once relatives have been informed of a genetic risk, they may prefer not to undergo further assessment to learn their own genetic status. There is a range of reasons for not wanting to undertake such assessment, including fear of discrimination, anxiety, denial, lack of knowledge, perceptions of pressure (Swartling et al 2007) and autonomy (Malpas 2005; Wilson 2005).

The box below indicates some benefits and risks of informing genetic relatives about possible risk. 

Potential benefits of disclosing:

  • Clarification of the risk status of clinically unaffected relatives so that they can consider predictive genetic testing (if available) and plan future medical and other life decisions.
  • The possibility for steps to be taken to reduce the risk of disease or allow early diagnosis and management, including for the manifestations in as yet incurable conditions.
  • The avoidance of the need for other investigative interventions if genetic testing identifies the relative as a 
    non-carrier.
  • The avoidance of mistaken diagnosis (of another condition) and inaccurate treatment.
  • In some cases, shared knowledge of the genetic condition within the family may help to avoid family breakdown and anger.

Potential risks of disclosing without consent:

  • Possibility of the privacy of the patient being affected.
  • Possibility of losing the patient’s trust and confidence.
  • Difficulties in the process of advising genetic relatives even if patient is willing to share genetic information.
  • Potential for patient uncertainties about the practicalities of disclosure.
  • Possibility of causing anxiety, distress or other negative emotions in genetic relatives when receiving information about a possible genetic risk.
  • Genetic relatives feeling that receiving unsolicited information about possible genetic risk is invasion of privacy.
  • Perceived pressure on genetic relatives to undertake genetic assessment.
  • Potential impact on insurances obtained, or that will be obtained, by genetic relatives as they have a duty to disclose to an insurer a possible genetic risk that may affect their insurability (eg. life insurance). 

Source: Adapted from Suthers et al 2006

2.3.3  The ethics of disclosing without consent

Any departures from maintaining a patient’s confidentiality must be taken very seriously (AMA 2006), and should be the exception rather than the rule. Accordingly, any decision to disclose genetic information to a patient’s genetic relatives without the patient’s consent must be made extremely carefully, weighing the patient’s privacy and autonomy against the potential to lessen or prevent serious harm for genetic relatives (Falk et al 2003).

In addition to ensuring that use or disclosure meets the requirements of HPP 10(1)(c1) and HPP 11(1)(c1), the decision involves consideration of:

  • the likely effect on the patient of breaching confidentiality; and
  • the possible ambivalence of genetic relatives to receiving genetic information.

The scenarios in Part D illustrate these considerations.

2.3.4  The ethics of non-disclosure

Even in circumstances where disclosure without consent would otherwise be permissible on the basis of the decision-making process outlined in these Guidelines, the treating health practitioner may be unwilling to disclose. This may be because of a belief that it is never acceptable for a clinician to breach a patient's confidentiality in the interests of others, or for other reasons.

The box below indicates some benefits and risks of not disclosing. 

Potential benefits of not disclosing:

  • Avoids breaching confidentiality.
  • Avoids potential for disruption to patient/doctor relationship.
  • Avoids causing anxiety to relatives.
  • Potential to reduce harm to family relationships.

Potential risks of not disclosing:

  • Relatives are left unaware of potential risk.
  • Potentially preventable harm cannot be averted.
  • Relationships within family may be damaged when relatives discover that information was not passed on to them.
  • Relatives who were not informed due to a deliberate decision by a health practitioner not to disclose may be distressed and experience harm as a result.

Guidance on the practical and legal aspects of non-disclosure is given in Section 3.3.5. 

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NSW Genetic Health Guidelines - Part C: Considerations when deciding whether to disclose without consent