Teachers notes

Epigenome analysis

In this case study, there are a number of issues which arise; below each is highlighted.

  1. Autonomy/choice

Autonomy reflects the capacity of an individual to make an informed and un-coerced decision. Its importance is reflected in the Hippocratic Oath taken by doctors in that doctors have an ethical duty to respect a patient’s autonomy.

Evidence suggests that there are transgenerational epigenetic health effects that predispose future generations to disease such as cardiovascular disease, cancer, obesity and diabetes thus it follows that there is a degree of moral responsibility placed on individuals to make lifestyle choices that limit these risks for future generations.

Epigenome analysis is not currently available but it is likely in the future that it will be possible to profile individuals as well as preconception, preimplantation and prenatal testing for epigenetic harms.

Benefits of testing include disease risk evaluation, early detection, prognosis and treatment response prediction, novel epigenetic therapy targets or the development of personalised treatment strategies. Such benefits could allow more efficient use of budgets within the NHS as well as improving the survival chances of an individual suffering from a disease. But, does making compulsory testing affect the natural order and allow individuals to “play God”? Do we have a right to know what diseases we may develop in the future?

  1. Equitable access to healthcare

Epigenetics acts as the link between the environment and disease since environmental exposure directly affects the epigenome, altering patterns of gene expression and potentially changing the phenotype.

Although the National Health Service in the UK is free at the point of contact, in other countries this is not the case. It is argued that those who are likely to be the most at risk at epigenetic modifications due to exposure to pollution, poor diet, at risk to alcohol and drug misuse or elevated stress levels tends to be individuals who do not have regular, timely and comprehensive access to healthcare (Rothstein, Cai and Marchant, 2009).

There are also clear correlations between health and socio-economic status- in general, poorer health and less healthy behaviours are associated with lower socio-economic position (Nuffield Council on Bioethics, 2007).

If epigenome analysis were to be made compulsory, in the UK the service would be provided on the National Health Service either free or potentially heavily subsidised. However, in other countries such as the United States, healthcare is provided on the basis of health insurance. Depending on the level of insurance, it is likely to individuals would have to pay for the analysis which could be expensive; despite the benefits, the cost of such analysis would potentially rule-out some individual’s being able to afford the test.

In addition to this, the population of developing countries are more at risk to epigenome modification due to pollution since pollution is often carried in prevailing winds or ocean currents far away from the source thus those who are directly affected are not responsible for creating the problem (Dupras, Ravitsky and Williams-Jones, 2012). As such, populations are not affected equally which creates injustice as developing countries are unlikely to have the infrastructure in place to deal with the epigenetic consequences

  1. Pricacy/confidentiality

Epigenetics research raises privacy and confidentiality issues, as it could provide a substantial amount of information about the likelihood that an individual will develop health problem as well as the probability that they will transmit the risk to his or her children (Rothstein, Cai and Marchant, 2009).

The increased use of electronic health records also increases the risk of loss of privacy through unauthorized disclosure. At present, privacy laws in the field of genetics does not include privacy protection for any epigenetic data generated and so in the future, new legislation may be required to protect the information generated from epigenetic testing and its potential misuse.

Since epigenetic information can have implications for children or grandchildren of a person who is tested, the right of family members to the information can be conflicted with the individual’s right to confidentiality. This right should be respected but must also be considered in addition to the rights of family members whose health and lifestyle decisions may be affected by knowing epigenetic risk (WHO, 2010).

  1. Allocation of resources

Both public and private providers of healthcare operate on limited budgets. In order to make fair uses of finite resources, in addition to the standard requirements of quality, efficacy and safety necessary for the approval of new medicines, public policy is to assess medicines for their cost-effectiveness (Nuffield Council on Bioethics, 2003).

Although this case study is not discussing medicines, the principle still applies as there is limited funds with which to run the National Health Service. With all of the potential benefits of epigenetic testing, would the cost of performing such tests outweigh the cost?

  1. Discrimination

As with other forms of genetic testing, fears have been expressed thatthat both employers and insurance companies could use information obtained from genetic tests against individuals in such a way that they could find it difficult to find a job or health insurance or life cover due to their epigenetic markers highlighting the potential to develop a disease later in life.

  • Employers: Use of genetic test results by employers was restricted by theEquality Act 2010, which restricts what employers can ask about in pre-employment medical checks such that employers can only ask for information that is directly relevant to the applicant's ability to carry out the work, or needed to make 'reasonable adjustments' to the workplace to enable a particular person to work there (Gene Watch UK). Similarly, theEU's Lisbon Treatyalso states (in Article 21) that any discrimination based on genetic features shall be prohibited in the European Union.
  • Insurers: At present, the UK has a voluntary moratorium on the use of results of genetic tests in setting insurance premiums until 2017 (except the results of tests for Huntington’s disease in life insurance policies of over £500,000). If this situation were to change, there is a possibility that patients would be discouraged from taking genetic tests that could be of value to them, for fear they would be unable to obtain insurance. At present, the moratorium also limits insurers' access to genetic test results;however, it is unclear what will happen when the moratorium ends in 2017.
  1. Eugeneics

Eugeneics is defined as a movement devoted to improving the human species through controlled mating.Although eugenics is illegal, epigenetic testing/screen raises a number of issues as it likely to be possible at some point in the future to develop preconception, preimplantation and prenatal epigenetic tests for particular modifications.

The results inferred from tests could have the potential to be used in such a way to prevent the transmission of modifications believed to be involved in transgenerational epigenetic harms (Rothstein, Cai and Marchant, 2009). Since accumulating evidence suggests that epigenetic marks can persist in future generations and have a predisposition to causing disease, undue pressure may be put upon prospective parents to prevent the transmission of epigenetic effects to their offspring, either through the termination of a pregnancy or to discard viable egg/sperm cells or embryos.

  1. Personalised medicine

It is broadly accepted that genetic variation can affect an individual’s susceptibility to developing a particular disease with genetic heterogeneity contributing vastly to the variation in efficacy of particular drugs. As the field of epigenetics broadens, it will be possible to screen an individual’s epigenome which could in turn lead to individual prevention strategies such as improving diet and lifestyle, novel diagnosis methods or beneficial treatments tailored to the individual such as tailoring drug regimens that will be most beneficial to the patient.

As such, pharmacogenetics could be complementary to the field of epigenetics as it could enable medicines to be designed on the basis of about the genetic characteristics of an individual’s disease or decisions about prescribing a medicine could be informed by knowledge of the genetic variation relevant to its metabolism in the body (Nuffield Council on Bioethics, 2003).

Key issues from resources

  1. Sale of personal gene data condemned as 'unethical and dangerous' (Guardian)
    Newspaper article discussing the access of an individuals genetic information stored in genetic databases e.g. by insurers or pharmaceutical companies. Data may not be suitable anonymised such that individuals could be identified raising issues of confidentiality and data misuse. Other issues that could be raised could be the need for legislation for appropriate privacy laws, data storage and ownership of data. Benefits of such databases could include effective therapies, development of therapeutics, prognostic indications, new biomarkers for disease and individualised preventative measures.
  2. Concordat and Moratorium on Genetics and Insurance
    Voluntary concordat on the use of genetic information by insurers. Aim of the quote is to stimulate discussion on who has the right to know or access information derived from such tests bearing in mind a person is only susceptible to developing a particular disease and will not necessarily go on to develop it. Concordat is in place until 2017 but after this there is nothing in place (likely to get extended but this is not certain) so students could also raise the issues for the need of legal protection against the misuse of genetic data and the potential for discrimination and stigmatisation.
  1. Community Genetics Services(World Health Organisation, 2010)
    Report discusses the need for the proper ethical safeguards to be in place for genetic screening and how confidentiality can be maintained in the face of a person’s epigenetic profile directly affecting their children and their children’s offspring. This raises the issues of who has the right to to know the information derived from such tests and whether any of us have the right to know about diseases that have the potential for developing in the future (considering that a predisposition does notnecessarily mean a person will develop it). Students could also consider the need for counselling/advice if information is made known to other family members.
  2. Genomics and World Health(World Health Organisation, 2002)
    Key issues raised in this World Health Organisation include how many chronic diseases involve a variable genetic component and the identification of the different genes involved in variable susceptibility to environmental agents. Raised the potential for pharmacogenetics so that therapeutics can be tailored to the individual such that the toxicity is reduced and efficacy increased, the time-scale of genomic potential, the cost of such tests and ownership and access to data. Students should raise the issue of confidentiality, cost-benefit analysis, potential for discrimination and stigmatisation depending on the results and the need for informed consent.
  3. Genetic databases(Biologist, 2001. 48:148)

This article discusses the need for genetic databases (not specifically epigenetic databases but they can be included here) and the potential issues they raise from their creation including ownership of data, financing the database, privacy and confidentiality. Other issues that could be raised could be the security of data, access of data by pharmaceutical and insurance companies and the right to know about the potential development of disease in the future. Benefits from such a database include personalised prevention strategies and tailored treatment, new biomarkers for disease and prognostic indicators.

  1. The Ghost In Our Genes: Legal and Ethical Implications of Epigenetics(Health Matrix Clevel. 2009 Winter; 19(1):1-62)
    Article which discusses the legal and ethical implications of epigenetics and epigenetic research. Aim of the quote given would be to stimulate discussion on the moral responsibility for future generations, how an individual’s choices can directly impact future generations and whether their autonomy would be compromised from epigenetic screening and public health measures aimed at improving lifestyle based on epigenetic data.
  2. The epigenetics revolution (BBC)
    Podcast interview discussing epigenetics generally, the Epigenome Project and how epigenetic data could be used to provide a baseline to help understanding of how diseases are initiated and develop. Key issues could include the potential for epigenetic therapy, confidentiality of data generated from epigenome analysis and data storage.
  3. Epigenetics: the key to cancer? (BBC)
    Podcast interview discussing how epigenetics can be linked to diseases such as breast cancer and the potential for detection before the development of the disease which could lead to targeted prevention strategies e.g. regular screening. Key issues to be raised by students include the time-scale for the development of such tests, whether people have the right to know about diseases they could develop and counselling of patients if they found out their individual risk of developing disease.

Bibliography

Dupras, C., Ravitsky, V. and Williams-Jones, B., 2012.Epigenetics and the environment in bioethics.Bioethics.2012 Oct 1.doi: 10.1111/j.1467-8519.2012.02007.x.

Gene Watch UK. Genetic Testing in Insurance and Employment.Available at

Nuffield Council on Bioethics, 2003. Pharmacogenetics: ethical issues. Available at

Nuffield Council on Bioethics, 2007. Public health: ethical issues. Available at

Rothstein, M.A, Cai, Y. and Marchant, G.E., 2009. The Ghost in Our Genes: Legal and Ethical Implications of Epigenetics. Health Matrix: Journal of Law-Medicine, Vol. 19, No. 1, 2009. University of Louisville School of Law Legal Studies Research Paper Series No. 2010-02

World Health Organisation, 2010.Community Genetics Services. Available at