Book Review: Medical Genetics + Law

Medical Genetics + Law By Dr Mair Crouch Published by MCTC Publishing ISBN-10: ‎‎ 1739633903, ISBN-13: 978-1739633905 Buy this book from Amazon UK

Advances in genomic medicine are rapidly changing the treatment options that are available to people with genetic conditions and also to those who are at risk of passing on a genetic condition to their children. While these scientific advances can be viewed as both exciting and necessary, they also raise a plethora of ethical and legal concerns, as well as raising questions about patient safety and equity of access.

Dr Mair Crouch, an honorary lecturer in Bioethics at the University of Glasgow, recognised the potential for the legislation that governs the medical profession and our social system to 'fall behind the scientific advancements in the field of medical genetics' and this concern prompted her to write her new book 'Medical Genetics + Law'. The book is aimed at 'providing a bridge between the professions of law and medicine', and as such, Dr Crouch has designed the book to be accessible to those working in the field of law and those working within the field of genomic medicine.

The book is really a book of two halves. The first half of the book can be used as a genetics text book, and would be particularly useful for readers who do not already have an in depth understanding of medical genetics. The first four chapters focus on the foundational aspects of genetics, including the process of genetic inheritance and a detailed examination of what 'errors' can occur within our DNA. The following two chapters discuss what genetic tests can be performed within the genetics laboratory and the situations in which these tests may be offered to patients. Even though I have a personal background in genetics, I found these introductory chapters to provide a helpful overview of a complex range of topics and I would have particularly valued this book during my genetics training.

The second half of the book focuses of the advances that have occurred within the field of genomic medicine and Dr Crouch highlights the challenges that can occur when these advances are incorporated within a clinical setting. The first chapter in this section provides an in-depth examination of the ethical and legal challenges that are raised by performing preimplantation genetic testing (PGT) on human embryos during the fertility treatment process. Dr Crouch's main focus was on the bespoke forms of PGT that are offered to individuals/couples who want to avoid having a child with a specific genetic disorder.

At present, PGT can only be performed for genetic conditions that have been approved by the Human Fertilisation and Embryology Authority (HFEA). The HFEA's statutory approvals committee review each licence application and a PGT license will be granted if there is sufficient evidence to demonstrate there is a significant risk that 'an embryo may have a gene, chromosome or mitochondrion abnormality' and that there is a significant risk that the person who inherits this abnormality 'will have, or will develop, a serious physical or mental disability, a serious illness or any other serious medical condition'. In many cases it can be relatively straightforward to demonstrate that these criteria are met, however, there are many genetic conditions that fall into a grey area. What if the condition is extremely variable? What if there are treatments available that can help manage the condition?

Dr Crouch presented a number of clinical examples to illustrate this 'grey area'. For example, women who carry a BRCA2 gene mutation have a 60-80 percent chance of developing breast cancer and a ten-30 percent chance of developing ovarian cancer. In contrast, men with a BRCA2 gene mutation have around a five percent risk of developing breast cancer and they also have a slightly increased risk of developing prostate cancer. At present, PGT-M is available to patients who are at risk of passing on a BRCA2 gene mutation to their offspring, however, it could be argued that the risks of carrying a BRCA2 gene mutation are not sufficiently 'serious or significant' for men to warrant discarding 'male embryos' with a BRCA2 gene mutation. However, at present, both male and female embryos with a BRCA2 gene mutation would be discarded as part of the PGT-M treatment process.

Another interesting focus of the book is the challenges that can arise when biobanks collect and use large biomedical datasets. Dr Crouch discusses the ethical issues that can arise when asking participants to provide 'broad' rather than specific consent for the use of their medical data. Do participants know how their data is being used? How would they feel about their data being shared with other organisations? Research has demonstrated that the public typically have a high level of trust in research institutions, however, this level of trust falls dramatically when commercial companies are involved in data handling and data analysis.

Dr Crouch provides examples of biobank data being shared with private organisations, including a range of pharmaceutical companies and even Google. While it could be argued that the data is shared in an anonymous way and is therefore not likely to contravene privacy laws, whole genome sequencing is becoming more common place and the uniqueness of the human genome may eventually allow individuals to be identified from their raw sequence data. It is clear that there needs to be strict data protection regulation for data generated and stored by biobanks, however, Dr Crouch explains that there is currently much confusion around the confidentiality status of data held by biobanks and there is a desperate need for further clarification and more robust legislation.

The ethical and legal challenges that new genome modification techniques raise are also examined. At present, there are still major concerns about the accuracy of genome editing techniques, such as CRISPR/Cas9, and extensive research and testing will therefore be needed before this treatment can be safely offered to patients within a medical setting. As with PGT treatment, there is a need to clarify what constitutes a 'serious and significant' genetic condition, to help identify the circumstances in which genome editing would be a permissible treatment option.

The final two chapters in the book focus on a range of other ethical and legal issues that require careful consideration. Such topics include the accuracy and appropriateness of the genetic tests offered by 'Direct to Consumer' (DTC) testing companies and the general lack of genetic counselling support for DTC participants who receive concerning results. Dr Crouch also explores how DTC testing will impact donor anonymity and considers whether personal genetic data can be viewed as family data and whether it should be mandatory to share genetic test results with relatives.

Overall, this was a fascinating and thought-provoking book which achieved its aim of bridging the gap between law and medicine. It would be of interest to individuals working within the field of genomic medicine, as well as those working within the medical law sector. Finally, anyone with an interest in reproductive medicine may also find this book relevant as genetic testing is becoming more commonplace within the fertility clinic.

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