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Genetic counselling: a new set of skills for primary care?

Susan Madge
Clinical Nurse Specialist for Cystic Fibrosis
Respiratory Unit

Kate Khair
Clinical Nurse Specialist for Haemophilia
Haemophilia Unit
Great Ormond Street Hospital for Children

There is probably no force in a society more powerful than the acquisition of information. The public demand for a better understanding of the basis of disease has fuelled the research on genetic disorders and testing for these disorders. Genetic testing will provide information leading to power, opportunity and responsibility.
This knowledge changes the flow of information about individuals and societies. We should therefore consider to what extent we want to apply this new technology and reflect on the changes that we are seeking. When genetic testing is carried out on an individual, information is gained not only on that individual, but also their family and their lineage. Ethical consideration should be given to the ownership of and access to this data.

Ethical questions
There are many uncertainties that need to be resolved on individual, local, regional, national and international levels before genetic predisposition to distinct diseases should be searched for. Consensus agreements based on informed decisions are the only way that conclusions can be reached about issues such as:

  • When screening for the benefit of future offspring becomes confused with eugenics.
  • Who will determine which genetic disorders ­constitute sufficient pain and suffering to be ­eliminated from the population.

With newfound knowledge, should we be making a decision about, for instance, whether to abort a fetus because in 60 years time the person might die of cancer,  in the meantime propagate that same genetic material?
Genetic testing has far-reaching implications. For example, personal secrets and dilemmas - such as paternity - may inadvertently be divulged. The identification of a genetic disease in an individual may require further family testing. We need to ask ourselves whether we are respecting the tested individual's right to confidentiality and their family's right to "blissful ignorance"? Some parents believe that their child should be spared the emotional hardships that can accompany genetic conditions. For example, should we condone termination of fetuses that are haemophilia or cystic fibrosis carriers (who will be clinically unaffected), in order to save people from having to make the same decision about having a baby with the same disease in the future?
As genetic testing becomes more accessible and the public demand the right to know, professionals are forced to consider who decides what is legal and right, and what is selfish and wrong? Who should decide whether testing should be undertaken - and who is responsible for what happens to this information? More controversially, should there be a social limit to this testing: for example, testing for deviations from the statistical norm, such as for obesity?
Although it appears that there is a consensus on the need for genetic testing, it is not a universal conviction. Many prolife groups feel strongly that genetic testing will lead on to eugenics. These groups have voiced concerns that the reason for genetic testing is to destroy disabled children, and that as a society we want to get rid of diseases such as Down's syndrome or spina bifida. They further claim that decisions based on genetic knowledge deny the rights of the unborn child. Genetic testing is obviously not a path that society will choose unanimously, and as professionals we must be aware of everyone's concerns and fears.
The availability of predictive genetic testing can only increase now that the human genome project is thought to be complete. However, how far this information could influence our daily lives is unknown, and we should proceed with caution. Although the identification of treatable diseases should perhaps be a primary aim, where do the rights of insurance companies and ­employers stand, or do they have any rights at all?
Nevertheless, identifying the genetic code holds great promise, but even if we would like to know our genetic future, should that information be collected and, more importantly, who should have access to it? In the USA the number of medical discrimination cases is on the rise, and the prevalent view is that genetic discrimination will become an important factor in these cases. Currently the public are safeguarded through laws protecting the privacy of medical information; should new laws be created to protect the individual from genomic discrimination?
Although in reality these developments will not and cannot be prevented from progressing, we may have to consider the long-term cost benefit of testing. It is now thought that few diseases result from single gene mutations. The severity of symptoms also depends on multiple genes, and how these interact and respond to each other and the environment. This makes simple genetic tests insufficient to accurately predict a genotype-phenotype correlation and so provide an accurate prognosis. Uncertainty in current screening processes may produce a high incidence of misdiagnosis, which may not only be devastating to individual lives, but may also have financial and resource implications. Therefore we must be cautious about the validity and benefits of predictive testing before these tests become established and accepted.(1) As a society, should we be asking whether the long-term cost benefits, both financial and emotional, outweigh the rights of the unborn? For example, haemophilia costs an average of £100,000-300,000 per year to treat; is this financially viable in the long term, and at what cost to children and adults with haemophilia?

Genetic counselling
The term "counselling" is most commonly associated with the type of psychological support offered following bereavement, marriage guidance or post-traumatic stress. The term "genetic counselling" may therefore be sending out an ambiguous message with a psychological need implied. Genetic counselling is, rather, a ­component of the genetic consultation process, and involves communicating accurate, sensitive and complex information in a nondirective and empathetic way.(2)
Advances in genetic testing will lead to an increase in demand from the public. Primary care teams are in an ideal position to become more involved in this process. However, they will need to develop a new set of skills to undertake this key role. These will include assessing the genetic risk of disease, being able to discuss the implications of genetic testing, and controlling access to specialist services.(3)
Providing a genetic testing service not only involves the acquisition of practical skills, but also engages members of the team in ethical decision-making where there are often no right or wrong answers. Although genetic testing primarily generates specific genetic data on one person, the results will unavoidably involve and impact upon the extended family. These data reveal information not only about the person ­examined, but also about their relatives and future children. The tested individual, their family and the team providing the genetic testing service may be faced with the problem of communicating news of a high risk for a genetic disease to healthy (asymptomatic) family members. Tested individuals may also be faced with making a moral choice between their right to confidentiality, the right of family members to be privy to this information, and their right not to know.(4) Offering a genetic test to a family member implies that they are at risk of the disease.
The very nature of disease means that genetic counselling crosses cultural boundaries and must take into account religious, social and ethnic beliefs. Miller  suggests that discovering genetic defects in a child touches on the most sensitive issues of childbearing, handicap and continuation of the family.(5) Whenever a child is involved, conflict may arise between the parent's desires and the practices and beliefs of their religion or culture. Without support, albeit unbiased, it may become difficult for parents to resolve these issues.
In the USA, the National Society of Genetic Counsellors suggests that the counsellor-client relationship is based on values of care and respect of autonomy, individuality, welfare and freedom.(6) The society suggest that these values can be achieved through:

  • Ensuring quality to all those who seek to use the service.
  • Respecting clients' beliefs, cultural traditions, inclinations, circumstances and feelings.
  • Enabling clients to make informed, independent decisions, free of coercion, by providing or ­illuminating the necessary facts and clarifying the alternatives and consequences.
  • Referring clients to other competent professionals when they are unable to support the client.
  • Maintaining confidential information received from clients unless released by the client.
  • Avoiding exploitation of their clients for personal advantage, profit or interest.

Many professionals working in the health service will start to become more involved in the provision of a genetic testing service, and although ideally a genetic counsellor will be a part of this service, in reality this will not always happen. The guidelines from the National Society of Genetic Counsellors may provide practice nurses with a useful framework in which to offer support to our patients.
Genetic testing will inevitably lead to gene therapy, and it may be difficult to undo genetic changes, especially when they persist through many generations into the future. A recent example of this problem can be found in the current research into genetic therapy for haemophilia, although this programme has recently been halted owing to transfection of somatic cell lines.(7)
When we are able to change the future through the alteration of our genes, we must ensure that we are thinking not only of ourselves, but also of how the decisions we make will affect our descendants. As a society we must think about how we can ensure that our genetic legacy is not only what we hope, but also what our descendants can accept.


  1. Holtzman NA, Shapiro D. Genetic testing and public policy. BMJ 1998;316:852-6.
  2. Harris HJ. Genetic counselling - does the terminology matter? BMJ 1997;315:1241-2.
  3. Kinmonth AL, Reinhard J, Bobrow M, Pauker S. Implications for clinical services in Britain and the United States. BMJ 1998;316:767-70.
  4. Wilcke JTR. Late onset genetic disease: where ignorance is bliss, is it folly to inform relatives? BMJ 1998;317:711-4.
  5. Miller R. Counselling about the ­diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B. Haemophilia 1999;5:77-83.
  6. National Society of Genetic Counsellors. Code of ethics 1995-2001.See­_code.asp
  7. Boyce N. Trial halted after gene shows up in semen. Nature 2001;414:677.

International Society of Nurses in Genetics (ISONG)
British Society for Human Genetics
Association of Genetic Nurses and Councillors
Clinical Genetics Society

Educational resources
DNA from the beginning A website that explains the basics of DNA, genes and heredity
MendelWeb An educational resource for teachers and students ­interested in the origins of classical genetics