New guidance on ethical issues in prenatal genetic diagnosis

Developments in genetic testing have massively widened the scope of diagnoses or predictions in the prenatal setting, bringing the ethical issues inherent in such an offer into increased focus.

Recognising this, the Joint Committee for Genomic Medicine (JCGM) – which includes the British Society for Genetic Medicine (BSGM) and the Royal Colleges – has developed professional guidance around the issues to consider in prenatal genetic testing. The guidance was written by Dr Ruth Horn, Alison Hall and Professor Anneke Lucassen, supported by a multidisciplinary working group, comprising clinical geneticists, clinical scientists, fetal medicine experts, patient group representatives, lawyers and ethicists. It builds on the JCGM's Consent and Confidentiality guidance of 2019, and illustrates key ethical challenges that may arise in practice as well as suggests possible approaches to respond to these challenges.

Targeted at a mainstream clinical audience, the guidance aims to respond to the increasing availability and use of genetic and genomic tests in routine prenatal care. These tests significantly increase the complexity of prenatal testing in three respects:

1. Uncertainty: The (often limited) knowledge about the fetus's phenotype means that the results of genetic tests may not give clear diagnoses or predictions. However, the choices that follow such testing are often binary, meaning there is only the option to continue with, or to terminate, the pregnancy.
2. Time pressure: Prenatal decisions often need to be made in a matter of days or weeks and may be influenced by statutory limits on the availability of termination.
3. Legal status of the fetus: Although prenatal testing will often focus on the potential future person, in law, the fetus is a part of the pregnant woman's body until birth. Consent for any testing of fetal tissue must come from the pregnant woman.

Consent and prenatal testing

Consent from the pregnant woman has two components:

1. The physical intervention for her (eg taking blood, amniocentesis).
2. The analysis performed on the biological material obtained from testing (ie both maternal and fetal biological material).

This second component will require detailed discussions about the scope and limitations of the test. As is always the case, the person giving consent must have the capacity to make that decision. This in turn will depend on factors such as age, and the nature of the decision to be made.

The pregnant woman must also be free from coercion or influence by others, and this stipulation can be difficult to assess given there are other interested parties – the father, for example – in the decision to be made. The guidance recognises that such complex decisions are not made in a vacuum and acknowledges that women may need support to make a decision they are comfortable with, which takes into account as far as possible the views of other interested parties.

Key legislation in the UK

The key legislation that regulates terminations of pregnancy is the Abortion Act 1967 as amended by the Human Fertilisation and Embryology Act 1990. This governs decisions to terminate a pregnancy on the basis of genetic test results.

This Act, as amended by the more recent Human Fertilisation and Embryology Act 2008, is also important in preimplantation genetic testing for monogenic disorders (PGT-M) and the guidance touches on this, together with interpretative guidance from Human Fertilisation and Embryology Authority Codes of Practice.

To illustrate the practical ethical challenges and possible approaches to them, the document includes 14 fictitious cases each including a narrative and a description of key points. The cases cover the following areas:

• Providing complex information about the scope and limitations of genetic testing.
• Seeking consent from patients or their surrogates and making best-interest decisions.
• Dealing with unexpected or uncertain findings concerning the fetus, the pregnant woman or other relatives.
• Managing disagreements between parents and/or healthcare professionals concerning the offer of prenatal genetic testing and post-test decisions while prioritising the pregnant woman's choice.
• Providing information about the legal framework for termination of pregnancy and practical implications to support the pregnant woman's decision.
• Handling potential tensions between the duty to focus on the patient and the duty towards others.
• Dealing with inequalities in access to technologies/testing and potential inconsistency of care.

The guidance suggests some key 'take-home' messages:

• Context is key (taking account of uncertainty, time pressure, and the legal status of the fetus).
• Pre-test discussions should focus on the wide range of analyses possible, including the potential uncertainties of the result.
• Genetic and genomic tests may have potential implications for other family members and pre-test discussions should consider this.
• Legal criteria for termination of pregnancy involving 'substantial' [risk] or 'serious' [condition] require professionals to incorporate context and the patient perspective into a decision.
• Resources such as emotional/psychological support for the mother (eg from the charity Antenatal Results and Choices) and multidisciplinary consultation with colleagues should be made available, especially in difficult cases.

We hope that this guidance will provide useful sources of support, and facilitate the decision-making processes for both professionals and patients.

We are grateful to the members of the working group and the executive committees of the BSGM and JCGM for their review of this document.

The guidance is now available online on the Royal College of Physicians website.