Social and Ethical Issues in Genetics: Screening, Gene Therapy and IVF

Just because we can...

Genetic technology answers the question "Can we?" more and more often. Can we test a newborn for hundreds of conditions? Can we choose an embryo without a disease allele? Can we edit a gene? The harder question is "Should we, and under what rules?" Science alone cannot answer that, but good answers always start with accurate science.

In this lesson you will look at three issues the curriculum names (genetic screening, gene therapy and in vitro fertilization), learn the Canadian laws that apply, and practise a method for building a fair, evidence-based argument.

Issue 1: Genetic screening

What it is: testing people for genetic conditions or carrier status. Examples: newborn screening (every baby in Ontario is offered it), carrier testing for people planning a family, prenatal screening and diagnosis, and direct-to-consumer tests sold online.

Questions it raises:

• Benefit: early treatment (PKU), informed family planning, peace of mind.
• The right not to know: a test for Huntington disease tells a healthy young adult about a condition with no cure. Some people choose not to be tested, and that choice deserves respect.
• Uncertain results: many genetic variants have unclear effects; results can cause worry without giving clear answers.
• Privacy: who can see your results? A test on you also reveals information about your biological relatives.
• Prenatal choices: some people with disabilities and disability advocates worry that routine prenatal screening sends a message about whose lives are valued; others stress the importance of choice and information. Both views deserve a respectful hearing.
• Direct-to-consumer tests: results may be less reliable for medical use, come without a genetic counsellor, and companies' data-sharing policies vary.

Canadian law: the Genetic Non-Discrimination Act (2017) makes it illegal to require a person to take a genetic test, or to disclose test results, as a condition of providing goods or services or entering a contract (for example, an insurance policy). The Supreme Court of Canada upheld the law in 2020.

Issue 2: Gene therapy and gene editing

What it is: treating disease by adding, replacing or editing genes (see the recent-advances lesson).

Somatic therapy changes cells in one patient's body only; it is not inherited. Most people see it as similar to other medical treatments, judged by safety, effectiveness and fairness of access.

Germ-line editing changes eggs, sperm or embryos, so the change would pass to all future generations, who cannot consent. Mistakes could spread. In 2018 a researcher in China announced the birth of twin girls whose genes he had edited as embryos; the work was widely condemned by scientists and he was later sentenced to prison in China.

Canadian law: the Assisted Human Reproduction Act (2004) prohibits making changes to the human genome that could be passed on to descendants. It also prohibits human reproductive cloning.

Other questions: very high cost (some gene therapies cost millions of dollars per patient), equal access, and where the line falls between treating disease and enhancement (for example, editing for height or athletic ability).

Issue 3: In vitro fertilization (IVF)

What it is: eggs are fertilized outside the body and an embryo is transferred to the uterus (see the reproductive technologies lesson). It has helped millions of people around the world become parents.

Questions it raises:

• Access and cost: a cycle of IVF is expensive. Ontario's public health system funds one IVF cycle for eligible patients (under 43), but there can be wait lists, and fertility medications (often thousands of dollars per cycle) and embryo storage are not covered.
• Multiple pregnancies: transferring more than one embryo increases the chance of twins or triplets, which carries health risks; Canadian clinics now usually transfer one embryo at a time.
• Unused embryos: what should happen to frozen embryos that are not used (store, donate to other people or to research, or discard)? People hold different values about this.
• Embryo selection: preimplantation genetic testing can help a couple avoid passing on a serious disease. Selecting embryos for non-medical traits raises many more objections; the Assisted Human Reproduction Act prohibits choosing an embryo's sex except to prevent, diagnose or treat a sex-linked disorder.
• Payment: in Canada it is illegal to buy sperm or eggs from donors or to pay a surrogate mother (beyond reimbursing certain expenses).

Consent and community: Indigenous perspectives in genetic research

Genetic research involves people, not just DNA. In the 1980s, researchers collected blood samples from members of the Nuu-chah-nulth First Nations in British Columbia for a study of arthritis. Later, without the communities' permission, the samples were used for other research, including studies of ancestry. The communities were not told and had not agreed. The case is now widely taught as an example of why informed consent must cover how samples will be used in the future.

Many First Nations, Inuit and Métis communities and organizations today set out how research involving their members and data should be done. The First Nations principles of OCAP® (Ownership, Control, Access and Possession) state that First Nations communities own and control data about their communities. Canadian research-ethics guidelines include a chapter on research involving First Nations, Inuit and Métis peoples, and projects such as Silent Genomes in British Columbia work with Indigenous partners and governance so that genetic diagnosis for rare diseases is available to Indigenous children and families, under community control of the data.

The lesson for everyone: consent is ongoing, and communities, not only individuals, can have a stake in genetic information.