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Australian Law Reform Commission - Reform Journal |
Reform Issue 79 Spring 2001
This article appeared on pages 14 – 18 & 74 of the original journal.
New genetics: benefits & burdens for families
By Dr Kristine Barlow-Stewart*
In all the media hype surrounding the mapping of the human genome — the 'deciphering of the Book of Life' — it is easy to miss the fact that while many genes have been located, to a large extent we have still to work out their role, how they are controlled and how they relate to each other.
This limitation in our knowledge in the field of medical genetics is illustrated by the following statistics: as at 19 August 2001, 10,498 genes have been mapped to individual chromosomes. Of these, 1,599 have been identified as being involved in a genetic disorder. Since 4 April 2001, 3,449 genes have been mapped while only six of these have been identified with a genetic disorder.1
So, while there is still a long way to go, issues surrounding the information generated to date need to be discussed and policies developed to guide practice in the emerging discipline of genetic counselling. There is enormous responsibility in being the equivalent of the fortune-tellers of the past; the practice must be based on science and encompass recognition of the psychosocial issues generated for individuals, families and society.
Genetic counselling
Genetic counselling is a relatively new discipline in Australasia: the first genetic counsellor received certification in this practice from the Human Genetics Society of Australasia (HGSA) in 1991. The process of genetic counselling, as described by the HGSA, is complex.2 It is a communication process that involves making or discussing a diagnosis, providing accurate information about the disorder and options available to the client and considering the impact the information has on clients and their families. Harper defines genetic counselling as ‘the process by which patients and relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and of the ways in which this may be prevented, avoided or ameliorated’.3
The results of a genetic test or a diagnosis of a genetic disorder cannot be considered or discussed in a vacuum; people bring to genetic counselling their own beliefs, values and experience. Integral to this process are the clients’ and families’ emotional and psychological responses as well as social issues.
Psychosocial responses
Both positive and negative emotional and psychosocial responses can occur to a genetic diagnosis or the result of a genetic test.4 Positive responses include the feelings of reassurance where they have not inherited the faulty gene involved. Even if they have, removal of the uncertainty is often liberating and empowering. For many, finally having a name or label to explain their symptoms and, therefore, knowing even to some degree what the future may hold, brings enormous relief. In our world of scattered families, the need to communicate even bad news can facilitate and strengthen communications that have not formerly been fostered. The development of prenatal diagnosis, or having a negative genetic test result can restore reproductive confidence. Such confidence can also be restored where the prospect for treatment or surveillance is now available or possible. Similarly, utilisation of genetic testing is more acceptable when treatment is available. For example, in Huntington’s disease, a late onset neurological disorder for which there is currently no treatment, uptake of testing is only about 20 per cent worldwide. In contrast, uptake of testing is increasing for haemochromatosis, a relatively common iron storage overload disorder where treatment, surveillance and prevention by regular blood donation is available and simple.
On the other hand, a genetic diagnosis or a positive genetic test result can generate grief: blame, guilt, shame, denial, anger and depression are often expressed. Family dynamics can be severely impacted: ‘it didn’t come from my side of the family’. Even when a person is shown to be negative for the faulty gene they can suffer from guilt of having ‘escaped’ and feel that they are no longer part of the family sharing a bond of being at risk. Limitations can be placed on expectations of a child or family member. Having a label or name for a disorder and, therefore, awareness of the range of possible symptoms that can occur can sometimes be a self-fulfilling prophecy. Most damaging can be the removal of hopes and dreams for the future. Treatment and surveillance may be available but involve difficult choices, for example, choosing to have a mastectomy to prevent breast cancer where genetic testing shows a woman is at high risk. A positive genetic test result may not deliver a person from uncertainty. If the condition is rare, little information may be available about the prognosis or path that the condition will take. Uncertainty is compounded when clinical signs indicate that, for example, bowel cancer is running in the family, but a mutation cannot be found in the genes analysed.
Where a fetal diagnosis of abnormality is made and a termination of pregnancy undertaken, the grief experienced may be disenfranchised; the problem is now gone so there is an expectation to get on with life. Yet the ‘afterwards’ can go on for a long time. There may be a sense of betrayal: ‘why me? what did I do wrong and will it happen again?’ Where there is an early termination, the issue of what happened to the baby can compound these feelings. Sometimes it does not seem to have been ‘real’, causing dilemmas such as whether or not to have a ritual or to name the baby.
Social issues
Social issues can impact on the decision to terminate a pregnancy and the community may be polarised on the ethics of this choice. A genetic diagnosis in one family member means that the affected person, or a parent, becomes the bearer of bad news. Decisions must be made as to who to tell (for example, children, grandparents, other family members, work colleagues), when to tell and how much to tell. Genetic counselling includes the discussion of the possible reactions that the individual may experience as well as how others may react. The support systems that are in place or may need to be developed can be explored and may include discussions of respite, the financial implications for the family and the potential for discrimination. Information about support groups is essential as they are an excellent resource in this area.
Conflict may exist between the scientific (biomedical) information provided relating to the genetic causes of the condition or its heritability and the beliefs and values held by the person or family, for example, karma, fate or ancestral retribution may be held as explanations for the cancer in the family.5 This conflict may be a barrier to dissemination of the information to at-risk relatives or acceptance of recommended surveillance strategies or treatment. Reluctance to discuss particular illnesses or to document relatives who may have been affected for fear of contagion may lead to inaccurate documentation of a family history and lack of referral for genetic counselling. Non-western concepts of kinship may also inaccurately inform family history.6 In addition, perception of disability is different in different communities and choices made about termination of pregnancy for disabilities unacceptable in certain cultures may challenge the values held by the genetic counselling team. Nevertheless, the basic tenant of genetic counselling is non-judgmental support of the client’s decisions. Cultural beliefs about the time at which life begins will also impact on the stage of pregnancy at which termination will be acceptable.
Genetic counselling is thus more than simply provision of genetic information. The information on which decisions are made needs to be relevant and understandable and is best supported by written, audio-visual or electronic resources to assist in attaining informed consent. The counselling process guides the client in making use of the information, enables discussion of the options presented in the context of their beliefs and values and facilitates decision making in considering the perception and understanding of the risks and burden of the disorder.
Genetic counselling after diagnosis of a genetic disorder
When a diagnosis of a genetic disorder is made, whether at birth, in childhood or in adulthood, questions that may occur include: ‘why did this happen? what did I do wrong? what will be the outcome for my child/spouse/sibling/relative? could this happen to my other children, other future children or other family members?’ Answers to these questions are not always available, particularly where the condition is rare. However, support groups can often assist in providing personal experience and expertise.
Where the diagnosis is made in a child, parental responses can be both positive and negative:
“Not knowing the cause of a child’s mental impairment can cause more destruction in a family than knowing it, facing it, and finally accepting it, thereby giving each member of the family more freedom to love each other and less time to blame each other.”
“As parents, it’s hard to accept that there is something wrong that can’t be fixed by us.”
Of course, the psychological impact of the counselling is compounded where it is not possible to make a diagnosis or it is determined that a diagnosis was incorrectly made or is incomplete. This can be due to a variety of factors. Some conditions with similar features are caused by faults in different genes; symptoms may not be present at all even though the faulty gene has been identified in that person; and variable expressions of the myriad of symptoms characteristic of the condition may occur even within members of the same family. Finally, the rarity of a condition and our still limited knowledge may preclude a diagnosis.
Predictive or presymptomatic genetic testing
For some conditions, a genetic test can determine if a currently healthy person is at higher than average risk for that condition. This is called predictive or susceptibility testing and is available, for example, for some cancers and neurological conditions.
Underpinning genetic counselling before and after predictive genetic testing is the concept that genetic disorders are family health problems. The shared nature of genetic information means that the diagnosis or determination of genetic susceptibility in one family member has implications for all other blood relatives. Obligations and responsibilities are, therefore, placed on both parties. The professionals need to respect the privacy and confidentiality of the genetic information; at the same time this needs to be balanced with their duty of care to other family members. This means that discussion of the family’s obligations to each other need to be considered prior to any genetic testing or clinical examinations leading to a diagnosis. Support and assistance with dissemination of the information within the family may avoid barriers to family communication. All participation in testing must be voluntary. Given the implications of a positive test result, pressure to have the test can be exerted by family members and potentially by third parties, such as insurers and employers. Lack of confidentiality of the test results could result in discrimination by the latter groups. The possible psychosocial effects of the results, both positive and negative, need to be discussed prior to testing. After such discussions, some may choose to delay testing or choose not to have testing at all.
Many of these issues are illustrated in the following scenario:
Jim, 35 years old, has a family history of cardiomyopathy, an inherited condition that affects the heart muscle. His father had the disorder and died at the age of 45. There is no cure and once a person develops the condition, it is often fatal. Sometimes death can be sudden, as a result of a heart attack. Symptoms usually appear in middle age, although children can be affected.
Jim has had a genetic test to see if he has inherited the faulty gene that causes cardiomyopathy from his father. While the test shows he has the faulty gene, he may never develop the condition. In his current job he works as a school bus driver and as he has a family to support, does not wish to change his employment situation. His GP, however, is very concerned that he may be endangering the lives of the children in his care if he continues to drive, knowing that he may have a sudden heart attack.
Now he knows he will possibly develop cardiomyopathy at some future date, Jim wishes to take out life insurance to protect his family. The insurance company wants to know if he has a family history of any heart disease and has he had any relevant testing.
A key issue here is privacy – the right of an individual to privacy about his or her medical future versus the public good. Who ‘owns’ this information and do third parties have the right to demand to know the results of the genetic test? Are these genetic test results in a different category to family history information, the simplest genetic test of all? Studies on reported genetic discrimination in insurance and employment groups in Australia illustrate that the concerns generated by this scenario are not fictitious.7
Prenatal testing
The implications for a positive result must be explained before testing is carried out in pregnancy. Such testing puts a woman or a couple on the path to a difficult choice if a fetal abnormality is detected: to continue the pregnancy and plan accordingly or terminate. It is not possible to predict how the couple will react and what choice they will make. When actually confronted with the situation, people will make a choice that is right for them at that time in their lives. These choices are made in the context of their beliefs and values, but they are often choices that put them between a rock and a hard place.
The issues surrounding prenatal testing include ensuring that it is undertaken only on an informed basis. That means understanding the risks of the test itself to the pregnancy and the limitations of the test. For example, testing can determine if the baby will have cystic fibrosis (CF) by examination of the gene and identifying the mutation. This genetic information is not, however, generally sufficient to be able to tell how severe the symptoms of CF are going to be. Sometimes a change is found in chromosome structure and at this stage of our knowledge we do not know exactly what genes are missing. In these situations only a best guess can be given as to the myriad of effects the genetic change can have.
Another area of difficulty is testing in pregnancy for adult-onset disorders. The condition may not onset until the baby is 40 or 50 years old. Autonomy underpins predictive testing but here the autonomy of the baby has been abrogated. If the result of the prenatal test is positive and the pregnancy continues there is a potential for family stigma and discrimination. This situation is well illustrated by the following family story.
Harry’s grandfather died from symptoms that were diagnosed as Parkinson’s disease but there was some doubt about this diagnosis at the time. When Harry’s mother developed similar symptoms to her father, the neurologist diagnosed a late-onset neurological disorder (simply referred to as LND) and confirmed this diagnosis with a genetic test. Harry was, therefore, at 50% risk for also developing the LND but Harry did not want to have the test; he would rather not know. Harry and Patricia became pregnant and had the baby tested when she was 12 weeks pregnant. If the baby had been negative, it would tell Harry nothing about his genetic status for the LND. However, the prenatal test was positive so Harry knew he would now develop the LND in a few years. He became depressed and committed suicide. At this point Patricia could not terminate the pregnancy and so the child was born, with Patricia and the genetics team knowing that LND would affect the child when it reached middle age.
Patricia returned home to her family who were unaware of the family history of LND or of the testing in pregnancy. Unfortunately, Patricia disclosed the genetic information in confidence to her sibling who then told the rest of the family. The child is now experiencing stigma from other family members and the possibility of insurance in the future is now unlikely.
Such difficult situations as described in these scenarios are not easily resolved but genetic counselling can assist the families to work through the problems and make decisions. Each genetic counselling session is conducted within the frame of reference of the person, couple or family, in the light of their experience, values and beliefs.
There are areas such as privacy and discrimination that may require changes to regulation or legislation and these are currently under review by the Australian Law Reform Commission and Australian Health Ethics Committee, expected to report in 2002. Any such changes, however, will not provide solutions to the ethical dilemmas increasingly faced by those experiencing the new genetics technologies.
“The search for meaningful ethical principles to guide us through difficult personal and collective decisions arising from the application of modern genetics will be an endless process.”8
* Dr Kristine Barlow-Stewart, PhD, is an HGSA-certified Genetic Counsellor and is Director of the New South Wales Genetics Education Program, based at Royal North Shore Hospital. She is also a member of the expert Advisory Committee established to assist the ALRC/AHEC joint inquiry into the protection of human genetic information.
Endnotes
1. <http://www.gdb.org/gdbreports/GeneticDiseases.html> .
2. <http://www.hgsa.com.au> .
3. PS Harper, Practical Genetic Counselling, Butterworth-Heinemann, Oxford, 1998.
4. R McGowan, ‘Beyond the disorder: one parent’s reflection on genetic counselling’ (1999) 25 J Med Ethics, 195-199.
5. LH Cohen ‘Fine BA, Pergament E An Assessment of Ethnocultural Beliefs Regarding the Causes of Birth Defects and Genetic Disorders’ (1998) 7 Journal of Genetic Counselling 1,15-29.
6. M Richards ‘It Runs in the Family: Lay Knowledge about Inheritance’ in A Clarke and E Parsons (eds) Culture Kinship and Genetics: Towards Cross-Cultural Genetics, MacMillan Press, Hampshire, 1997.
7. K Barlow-Stewart and D Keays ‘Genetic Discrimination in Australia’ (2001) 8(3) J Law and Medicine, 250-262.
8. D Suzuki and P Knudtson, Genethics: The Ethics of Engineering Life, Allen and Unwin, Sydney, 1998.
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