NSW Genetic Health Guidelines - Part D: Scenarios
This section includes a number of scenarios that provide general guidance for authorising medical practitioners and disclosing health practitioners about meeting the requirements under HPP 10(1)(c1) and HPP 11(1)(c1) and acting in accordance with the Guidelines. While the scenarios centre on DNA-based testing, the Guidelines relate to genetic information irrespective of its source.
It should be noted that the scenarios are to assist compliance with HPP 10(1)(c1) and HPP 11(1)(c1) and the nine guidelines. Acting in accordance with the scenarios does not necessarily protect against a breach of the HPPs or a breach of confidence (common law).
When the patient chooses to contact relatives or provide consent
In the following scenarios the patient provides consent for relatives to be contacted. The process therefore falls beyond the scope of HPP 10(1)(c1) and HPP 11(1)(c1). Elements of standard good practice (such as documenting the process in patient records) are assumed and not highlighted in the scenarios.
This scenario describes a situation where consent is given and the provisions under HPP 10(1)(c1) and HPP 11(1)(c1) are not applicable. It is included here to illustrate good practice in discussing use or disclosure in the more usual situation where consent is given.
A patient who had recently been diagnosed with autosomal dominant polycystic kidney disease was referred by her nephrologist to a genetic counsellor. The patient had some knowledge of the pathophysiology of the condition and the counsellor was able to provide her with a clearer understanding of its heritability. The woman was concerned about the future health of her two children and future grandchildren. She was keen to pass any information on to her own children and was also interested in whether the condition was likely to affect her cousins and their children.
Points for consideration:
- What factors support disclosure in these circumstances? — This is an autosomal dominant disorder with high penetrance, and each child is at 50 per cent risk of inheriting the causative mutation and of developing polycystic kidney disease. The disease can be life-threatening, often leading to chronic renal failure, and is associated with cerebral aneurysms.
- What factors weigh against disclosure? — Even though the patient is keen to pass on the information, she should be counselled to do so carefully and with due consideration to whether it is in her relatives’ best interests (for example taking into account the age and maturity of her children and the views of their father about disclosing the information).
- What information could be given to the patient? —In this case, it is possible to quantify the risks to the woman’s children and to give an indication of likely risks to the other relatives. Available preventive measures and treatment options could also be discussed.
- Who might be involved in decision-making? — In this case, a genetic counsellor has already become involved. This professional has the expertise to inform the woman of the genetic implications of the condition for herself and for her genetic relatives. The counsellor may also discuss the importance of informing genetic relatives of their increased risk in such a way that they can choose whether or not to seek more information.
How might disclosure take place? — Because the patient has consented to disclosure, the use of these Guidelines is not required. The patient could be supported with appropriate written materials, including information about support groups and counselling. The process of disclosure must be documented as part of the patient’s medical record.
This scenario describes a situation where the patient advises some family members to attend a genetics service and cascade contact is used to contact other genetic relatives.
Suzanne, whose maternal grandmother died of breast cancer in her thirties, tested positive for a mutation in the BRCA2 gene. Suzanne was advised to contact genetic relatives and suggest that they make contact with the genetics service. She refused to contact her sisters or her mother, Margaret, for personal reasons, but advised her daughters to attend the service. One of the daughters came to the service for testing and readily agreed to advise Margaret. Margaret contacted the service and made an appointment. She too tested positive for the mutation. It was suggested that Margaret (now the patient) notify genetic relatives. Margaret contacted the two sisters. Both sisters attended the genetics service and Carol, the younger of the two, tested positive for the mutation. Carol gave consent for the genetics service to contact her children and grandchildren.
Points for consideration:
- Why might disclosure be advisable in these circumstances? — The mutation identified increases the risk of breast cancer and ovarian cancer. Prophylactic mastectomy and/or oophorectomy can reduce the risk. Selective oestrogen receptor modulators (e.g. Tamoxifen) can also be used to reduce risk and early detection methods
(e.g. mammography) can be used to detect the cancer when it is most treatable.
- What factors weigh against disclosure? — Suzanne did not consent to disclose to her mother or sisters. However, the fact that she did inform her daughters meant that a process of cascade contact could be used and there was no requirement for disclosure without consent.
- What information could be given to the patient? — In each case, the women need to be advised of the risks to themselves and the potential for disclosure to reduce the risk to genetic relatives. Genetic counselling should be offered to each patient.
How might disclosure take place? — The process of cascade contact employed in this scenario allowed contact to be made with consent for a number of women who had the potential to carry the BRCA2 mutation, with only first or second-degree relatives being contacted in each instance. Any process of cascade contact needs to be carried out with due regard to the confidentiality of all patients involved.
This scenario highlights the importance of ongoing provision of information with the authorised representative of the person deciding to pass on information to family members after several months of discussion and counselling.
A patient with significant dementia and a history of psychosis of late onset had been diagnosed with Alzheimer disease before being seen by a neurologist in private practice. The man had a movement disorder and progressively slurred speech consistent with Huntington disease. Genetic testing documented a pathogenic mutation in the Huntington disease gene. Initially, the patient’s wife (as his authorised representative) decided not to pass on information to those at potential risk, as she was concerned about the impact of this information on her children. However, after several months of discussion and counselling, she decided to pass the information to other family members.
Points for consideration:
- What factors support disclosure in these circumstances? — Even in incurable, slowly progressive illnesses, there is some urgency to inform genetic relatives. If they choose to have it, predictive testing for Huntington disease would allow the man’s genetic relatives (siblings and their children and adult grandchildren) the potential to plan for the disease’s onset and ability to make major life decisions.
- What factors weigh against disclosure? — The likely effect on relationships within the family and between the family and health practitioner are considerations, especially in this case where being informed of risk may cause great anxiety.
- What information could be given to the patient or authorised representative? — Reasonable steps have been taken to determine whether the patient has the mental ability to understand this particular situation sufficiently to make an informed decision. As he has impaired decision-making ability, the information is given to his wife as authorised representative. This would include information about the course of the disease and treatment or care options.
- Who might be involved in decision-making? — Expert advice (e.g. from a psychiatrist, neurologist, geriatrician) may be required in this case to assess the mental ability of the patient and to assist in decision-making regarding the seriousness of the threat to genetic relatives and ways in which the threat could be lessened or prevented.
- How might disclosure take place? — In this case, the authorised representative changed her mind after being given more information and decided on his behalf that the information should be disclosed to genetic relatives. However, with or without consent, disclosure of information about progressive degenerative disorders such as Huntington disease should be done with great care and in a timely manner so that relatives can be informed of the possibility of being at risk but choose whether or not to undertake testing to find out their genetic status. Continuing family and genetic counselling may assist family members to understand the nature of the risk and come to terms with the situation.
When consent is not given and disclosure without consent takes place
The following scenarios describe situations in which consent is not given and there is potential for disclosure to take place following the process outlined in these guidelines. The scenarios are provided to illustrate certain principles. They do not highlight every aspect of the process and cannot be used as templates.
This scenario describes a situation where an authorised representative of the patient does not give consent for disclosure. In the light of the serious threat to genetic relatives, a decision is taken to disclose to the relatives without the consent of the authorised representative.
A man with dementia came to a private clinic accompanied by his wife. In the past he had been shown to have a mutation for the Huntington disease gene. The husband was severely demented and could not communicate. Assessment confirmed that he was unable to understand his situation and give consent to inform genetic relatives of their risk and his wife was identified as his authorised representative. Information about the implications of the diagnosis for genetic relatives and consideration of disclosure that would have been given to the patient was then given to his wife. During the course of these discussions, the neurologist ascertained that the patient and his wife had not told their adult children or the patient’s siblings of this risk. When the father was admitted to hospital, the three adult children supplied names and addresses for contact in the event of deterioration.
Despite careful explanation from the neurologist and the social worker on a number of occasions, as well as by other clinicians when the husband was admitted to hospital, the wife (as authorised representative) continued to refuse to notify her children of their risk.
Points for consideration:
- What factors support disclosure in these circumstances? — The authorising medical practitioner has a reasonable belief that disclosure to the man’s children is necessary to lessen or prevent a serious threat to the adult children’s life, health or safety. The couple’s adult children and other genetic relatives, if informed of their risk of inheriting the Huntington disease mutation, may wish to consider undertaking predictive testing. Knowledge of this risk would allow planning for the disease’s onset. If a predictive test is taken, the risk of inheritance is further clarified and may influence major life decisions, as well as allowing early recognition of manifestations, such as treatable depression and cognitive changes.
- What factors weigh against disclosure? — Despite counselling, the children’s mother, as authorised representative for her husband, is adamant that the children should not be informed of their risk. Disclosing without consent is likely to irrevocably change relationships within the family. There is the possibility that adult children could be unduly distressed, that they may already have the onset of illness or could have a prodromal psychiatric illness. It is also possible that the mother may be refusing to disclose in order to conceal non-paternity.
- What information could be given to the patient? — In this case, reasonable efforts have been made to ensure that the patient’s understanding is as thorough as possible. This included explaining the condition and the implications of disclosure using simple language. The neurologist then assessed the patient’s ability to give informed consent. In this case the patient was severely impaired at presentation. When a person is judged as one who is unable to meaningfully consider and make a decision, reasonable efforts should be made to ensure that the person is, in fact, unable to understand this particular issue and its implications.
- What information could be given to the authorised representative? — As it has been determined that the patient lacks capacity to give informed consent, the wife as authorised representative should be given the necessary information and assistance regarding the disclosure to enable her to make an informed decision on the patient’s behalf. Such information should include, for example, the likely threat to genetic relatives if they are not advised of their risk and therefore do not seek health advice, and the process for disclosure. It is important that the woman be asked to consider what her husband’s wishes would have been. She could also be actively encouraged to seek further advice from a genetic counsellor.
- Who might be involved in decision-making? — The treating neurologist may elect to take this matter further by discussing with experienced colleagues whether or not to disclose in these circumstances. If there is reasonable belief that disclosure is necessary to lessen or prevent a serious threat, a decision may be taken to disclose without consent.
- How might disclosure take place? — In this case the couple’s adult children could be contacted. Conditions such as Huntington disease are incurable and diagnosis can cause great anxiety. Before contacting the relatives, the disclosing health practitioner should be aware of interventions and actions that may help people who are dealing with the prodromal psychological consequences of being informed about the diagnosis, and of specific care for the relatives.
This scenario describes a situation in which there is reasonable belief that disclosure is necessary to prevent harm to genetic relatives but difficulties arise in maintaining the confidentiality of the patient.
A GP in private practice in a country town diagnosed haemochromatosis in a male patient in his late thirties. As far as the man knew, no other member of his family had been diagnosed with haemochromatosis but his mother had severe arthritis. The GP explained the likelihood of the man's parents and younger brother carrying the mutated gene for the potentially serious condition. The patient did not want to contact family members himself because he did not want his identity revealed but agreed to the GP contacting them. However, at the following consultation the patient withdrew consent, saying that he didn't want to worry his family, and he declined to be referred to a clinical genetics service.
After a telephone consultation with a clinical geneticist in private practice in the city, the GP believed that there was a serious threat to the health of the man's relatives that could be lessened and that he should disclose. However, he was concerned about protecting the patient's identity. The GP prepared a letter on his letterhead for genetic relatives.
He was able to obtain their contact details lawfully. He informed them that he had been advised that a member of
the family had been diagnosed with a familial disorder. He explained that the serious nature of the condition provided exceptional circumstances in which they could be contacted without the consent of the patient concerned. He suggested that they attend their own GP or local health service, taking the letter with them.
Points for consideration:
- What factors support disclosure in these circumstances? — Hereditary haemochromatosis increases the amount of iron that the body absorbs, with excess iron being deposited in multiple organs of the body. Excess iron stores can result in cirrhosis, diabetes, cardiomyopathy, pigmentation of the skin, and arthritis. The condition is fatal if not treated and early intervention can prevent organ damage before it occurs. The GP thus has a reasonable belief that disclosure to the man’s parents or younger brother is necessary to lessen or prevent a serious threat to life, health or safety.
- What factors weigh against disclosure? — As this is a common disorder, and easy to screen for by measuring iron levels in the blood, it may be detected in relatives anyway, removing the necessity for disclosure without consent. However, early detection is preferable as late diagnosis is associated with poorer outcomes.
- What information could be given to the patient? — In this case the patient has been provided with information about the condition and the benefits of informing genetic relatives. Disclosure to genetic relatives has also been discussed but the patient has withdrawn his consent.
- Who might be involved in decision-making? — The GP provided the patient with sufficient information to make a decision about disclosure. He also consulted a clinical geneticist about the likely threat to the patient's relatives.
- How might disclosure take place? — Disclosure is possible in this scenario because the GP has been able to obtain the contact details for the patient's relatives lawfully. The approach taken considers the patient's privacy, the impact of the patient's diagnosis and the implications of this on genetic relatives. The GP should also notify the patient that disclosure to his relatives has taken place and that this was done in a way that reduced the likelihood of his identity and diagnosis being identifiable.
When consent is not given and disclosure does not take place
In the following scenarios no decision is reached as to whether disclosure without consent is permissible and the circumstances remain under review.
This scenario describes a situation where the risk to genetic relatives is clear, with the potential for at least three people to benefit from the information. The scenario is provided as an illustration of how the nature of the situation and the potential for damage to relationships from non-consensual disclosure can complicate decision-making.
A patient was referred to a gastroenterologist. His father had had a familial form of colorectal cancer, familial adenomatous polyposis, and had died when the patient was 12 years old. The patient had been found to carry a mutation in the APC gene. The patient had already been given an explanation of the need to monitor people with this mutation and of the risks involved. This explanation was reinforced by the gastroenterologist, with discussion covering the importance of sharing the information with genetic relatives and the potential for disclosure to take place without consent in certain circumstances.
The patient refused to make contact with his estranged wife and their three sons. When the specialist suggested that she could contact them on his behalf, he said it was not his problem, that he did not know where they were and that he didn’t want them to be contacted. However, the specialist realised that one of the sons (aged 13 years) had recently been referred to her complaining of abdominal pain. The gastroenterologist discussed the case with a senior colleague and also consulted a clinical geneticist.
Points for consideration:
- What factors support use or disclosure in these circumstances? — Because of the high risk and early onset of colon cancer (by age 40) in most individuals with an APC mutation, this situation represents a serious threat to the life, health or safety of genetic relatives that could be lessened by use or disclosure. Diagnosis before the development of cancer allows for preventive treatment e.g. colectomy during teenage years.
- What factors weigh against use or disclosure? — Although a serious threat to genetic relatives exists, and this could be lessened or prevented by use or disclosure, consent has not been given and the case must be reviewed by experts in the area. Use or disclosure has the potential to compromise the relationship between the patient and the gastroenterologist, and to further compromise the relationship between the patient and his family.
- What information could be given to the patient? — The patient has been given the information needed to understand the implications of the diagnosis for his genetic relatives. If he continues to withhold consent, discussion of the possible use or disclosure without consent should be initiated. This should cover the provision in legislation for non-consensual disclosure to genetic relatives, the basis of the belief that release of the information is necessary to lessen a serious threat and the fact that the information would not directly identify the patient or the condition. The practitioner’s continued duty of care towards the patient and the continuing availability of genetic counselling for the patient should also be highlighted.
- Who might be involved in decision-making about use or disclosure? — The gastroenterologist could make a decision regarding use or disclosure in consultation with her senior colleague and the clinical geneticist (ensuring the identity of the patient is not apparent or readily ascertainable where practicable). In doing so she would be acting in accordance with these guidelines and thus with the law. She may also choose to seek advice from her medical defence organisation. If the gastroenterologist decides to use or disclose the information without consent, she should notify the patient of this decision.
- How might disclosure take place? — In general clinical practice, the medical practitioner in this scenario would most likely disclose to the mother, explain the risk and provide the opportunity for DNA testing of the adolescent. If the gastroenterologist makes a decision to disclose, she could contact the mother in writing advising her to make an appointment to discuss the familial disorder. The opportunity for genetic counselling and DNA testing could then be provided. Cascade contact (as outlined on page 32) could then be used to reach other genetic relatives. All communications with genetic relatives would need to be undertaken with consideration of the privacy of the patient and other relatives.
This scenario describes a situation where there is a risk of psychological harm to genetic relatives. Further exploration of the situation would be required before non-consensual disclosure could proceed.
A 29 year-old man was found to have a balanced chromosome translocation during evaluation for his partner’s history of recurrent miscarriages. When cells of people with balanced chromosomal rearrangement divide to create eggs or sperm for reproduction, some of the chromosomal material can be duplicated or missing. This leads to an unbalanced translocation, which often results in miscarriage or may result in a live-born child with major congenital malformations. The translocation diagnosed was considered to be unlikely to cause the man any medical problems but may have accounted for his partner’s history of miscarriages. The man stated that there was no family history of children with major congenital malformations or disabilities.
Some of the man’s relatives could carry the same balanced translocation, despite them being healthy. Disclosure of his genetic diagnosis could facilitate clarification of their risk of having miscarriages or may provide an explanation for miscarriages that have occurred. The man’s sister was at risk of having the same translocation and potentially multiple miscarriages because of her carrier status. The man was provided with this information. He refused to advise her although she had recently miscarried and was known to be planning another pregnancy.
Points for consideration:
- What factors support disclosure in these circumstances? — Miscarriage and especially repeated miscarriages may result in high psychological burden for a woman. Even though the sister's physical health is not under any serious threat, her circumstances mean that she is at high risk of psychological damage in the event of repeated miscarriage. Disclosure would allow her to choose to clarify her carrier status by genetic testing. She could be prepared for the likelihood of further miscarriages and access support and counselling services if necessary. This would apply to other close relatives, male or female. While it may be usual for the couple’s chromosomes to be checked after three miscarriages, prior knowledge of the woman’s carrier status would avoid the many months or even years of delayed fertility and the psychological and physical impact that multiple miscarriages may have.
- What factors weigh against disclosure? – Disclosure in this case may reinforce to the couple the man’s perception that he is “responsible” for his partner’s miscarriages. It may also affect relationships within the wider family.
- What information should be given to the patient? — The implications for the man’s genetic relatives and benefits of notifying his sister have been explained. It would be worth exploring the man’s response to his new diagnosis that probably accounts for his partner’s continued miscarriages and the impact that the experience is having on their relationship.
- Who might be involved in decision-making? — The treating clinician should seek advice from other experts. Referral of the man for expert psychological counselling would also be advisable.
- How might the disclosure take place? — The man’s initial response to the possibility of disclosure may reflect an acute reaction to the diagnosis. With support, information, and the passage of time, he may subsequently agree to disclosure. On the other hand, his response could represent difficulties in the family dynamics. In a situation where the patient continues to withhold consent and where there is reasonable belief that the threat to genetic relatives is of a serious nature and disclosure necessary to lessen the threat, informing the sister and other close relatives may be appropriate.
This scenario describes a situation where the patient is a child and a parent decides not to give consent to disclosure. The diagnosis is such that there is the possibility that a number of the genetic relatives could experience a late onset degenerative neurological condition, and female genetic relatives could experience premature ovarian failure. However, further consideration is required to determine whether disclosure would be necessary to lessen or prevent a serious threat.
The autistic symptoms of a five-year-old boy combined with family history suggested to his paediatrician a diagnosis of Fragile X syndrome. The mother’s father had shown Parkinsonian symptoms and an aunt had been unable to have children. On DNA testing of the boy, a mutation of the FMR1 gene diagnostic of Fragile X syndrome was identified; a premutation of the same gene was identified in his mother. Following discussion of the diagnosis, the woman decided not to share this genetic information with genetic relatives. The woman had a number of siblings living in the same town.
The paediatrician sought advice from practitioners with appropriate expertise on the seriousness of the threat to the life, health or safety of genetic relatives.
Points for consideration:
- What factors support disclosure in these circumstances? — Fragile X syndrome is caused by a mutation of the FMR1 gene. When it occurs in a child, the mother usually carries a premutation of the gene. Males can also carry the premutation. Individuals with a premutation can experience early menopause and/or reduced fertility (women) and/or a late onset (over 50) degenerative neurological condition sometimes diagnosed as Parkinson’s disease (FXTAS; more common in males). The diagnosis of Fragile X syndrome in the boy therefore has implications for a number of the woman’s genetic relatives.
- What factors weigh against disclosure? The mother’s lack of consent for disclosure is the main consideration in this case, as disclosure without consent is likely to affect family relationships and the doctor/patient relationship. The fact that the condition is not curable needs to be taken into account, although many of the symptoms can be treated.
- What information could be given to the patient? — The child in this case is very young and it is unlikely that he would play a role in discussion of the case. He is likely to have significant intellectual disability, and emotional and behavioural problems.
- What information could be given to the authorised representative? — Prior to DNA testing taking place, the mother of the child should have been given an explanation of the causes of Fragile X syndrome and the pattern of its inheritance, as well as an explanation of the significance of this diagnosis for genetic relatives, the need for them to be advised and the potential for them to be advised without her consent. She should also be aware that information allowing diagnosis in her relatives would prevent them having to undergo unnecessary interventions, some of which carry risk.
- Who might be involved in decision-making? — The seriousness of the threat to the life, health or safety of genetic relatives presented by the full mutation and the premutation would need to be considered by health practitioners with appropriate expertise (e.g. covering the areas of neurology and gynaecology as well as paediatrics and clinical genetics).
- How might disclosure take place? — It is possible that the paediatrician may identify another affected child in the family, thereby providing a second opportunity to notify the extended family and avoid invasive testing in other children in the family. If this does not occur, the paediatrician will need to make a decision about whether disclosure without consent is necessary to lessen or prevent a serious threat to the life, health or safety of genetic relatives.
When consent is not given and use, but not disclosure, takes place
In the following scenario disclosure of genetic information is not permissible under HPP 11(1)(c1) but use of the genetic information within the organisation may be appropriate under HPP 10(1)(c1).
In this scenario the risk to genetic relatives is difficult to define and other measures (ie use rather than disclosure) are available to assess the risk to genetic relatives making disclosure without consent unnecessary.
A GP with considerable expertise in the management of diabetes diagnosed the condition in a middle-aged woman. The GP also treated most of the woman’s immediate family, including her children and grandchildren. He explained the likelihood of other family members having a predisposition to the condition. The woman was adamant that no-one in her family should “know that she was sick or that there was a sickness in the family”.
Points for consideration:
- What factors support disclosure in these circumstances? —Diabetes is a common condition that can lead to a number of complications if left untreated. Early diagnosis and treatment can prevent many of these complications, and changes in lifestyle can delay onset of the condition.
- What factors weigh against disclosure? — The heritability of diabetes depends on multiple genes and their interactions with environmental factors, so the risks to genetic relatives are not clear. In addition, diabetes is easy to screen for during routine appointments, and is a common diagnosis. Given these factors, it is difficult to justify overriding the woman’s refusal to consent to disclose.
- What information could be given to the patient? — The woman should be advised that although the risk to her genetic relatives is hard to define accurately, it would be preferable for them to know that they may be at increased risk so they can make lifestyle changes and have their glucose levels tested regularly.
- Who might be involved in decision-making? — In this case, the GP would not continue with consideration of disclosing genetic information without consent, as the risk to relatives is determined by a multitude of factors.
- How might disclosure take place? —Disclosure without consent would be inappropriate in this situation, as it would not lead to a lessening of the risk. As diabetes is a very prevalent disease, the condition is likely to be picked up by routine health screening. In dealing with other family members, the GP must ensure that his duty of confidentiality to the woman is not breached.