Ethical, Legal, and Social Issues — Integrating Genomics into Medicine (IGM)

Introduction

Genomics research raises ethical, legal and social (ELSI) questions which are specific to this type of research or are heightened in genomics as compared to other types of research. This section will provide a link to the National Statement’s sections which pertain to genomics research. We will review the four medical ethics principles with a genomics lens and then review genomics specific elements.

National Statement on Ethical Conduct in Human Research

The National Statement includes a chapter (Chapter 3.3) dedicated to genomics research. These guidelines are tailored towards different steps of the research journey:

Element 1: Research Scope, Aims, Themes, Questions and Methods
Element 2: Recruitment
Element 3: Consent
Element 4: Data Collection and Management
Element 5: Communication of research findings or results to participants

For more information on the National Statement, click the image above

The Genetic Dimensions to the Four Pillars of Medical Ethics

Beneficence (do good) and Non-maleficence (do no harm)

Ensure informed consent:

• Will results be communicated to participants?
• Will the analysis plan mitigate the risks for incidental findings?
• Will analysis include evaluation for secondary findings?
• Results might have health implications for family members, given the shared nature of genomic information (discussed further below)
• Potential for predictive results e.g., which pertain to future health
• Might data be shared with other research groups?
• Potential for biospecimens/data to be used in future research.
• Will samples and/or data be stored indefinitely or disposed of at a certain point?
• Might there be a point when they can no longer withdraw their data?
• Genomic information/result interpretation may change over time and they should be advised about whether there are options to request this data.
• Secure storage of data
• Potential for re-identification, particularly in rare diseases.
• Likelihood of needing to involve other family members in research. Participant, not researcher, should approach family members. Need a plan for protecting privacy regarding the decision to participate and protecting the privacy of results for each individual.

Responsible plan for returning results
Discuss potential for genetic discrimination

Justice (ensuring fairness)

Community engagement throughout – Aboriginal and Torres Strait Islander Peoples
Equity in accessing genomic research studies
Ensuring results of research benefit all individuals.

Autonomy (freedom to choose freely)

Freedom to decline or withdraw from participation
Freedom to decide to participate free from coercion – by either researchers or family members
Freedom to decide whether to receive results and change that decision over time
Inclusion of consumers and diverse advisory group members in research design, delivery, analysis, and dissemination.

Ethical Issues Specific to Genomics Applications

Shared Nature of Genetic Information

As we share our genetic information with our relatives, it is unsurprising that identifying a genetic disease or variant in one family member has implications for others. If a child is diagnosed with a recessive condition e.g., cystic fibrosis, we automatically know that each of the parents must be carriers. Furthermore, the siblings of each of the parents have a 50% chance of being a carrier. Similarly, if a boy is diagnosed with an X-linked disorder e.g., Duchenne muscular dystrophy, and there is a maternal history of other affected boys in the family, then we immediately know that the mother is a carrier. These are referred to as obligate carriers. Alternatively, imagine that a grandparent had Huntington’s disease, and their adult child declined testing, but the adult grandchild wanted to know their result. The grandchild’s positive result would automatically reveal the result for the parent. Therefore, although other types of medical information are specific to an individual, a genetic test result has implications for other family members.

Genetic Discrimination

What is Genetic Discrimination?

“Differential treatment of asymptomatic individuals or their relatives on the basis of actual or presumed genetic differences”.

Genetic Discrimination (GD) no longer applies once a person has developed symptoms.

GD can occur in social situations, employment settings and when applying for life insurance.

GD does not pertain to health insurance in Australia as that is community-rated, not risk-rated (i.e., an individual’s personal medical history is not required when applying for health insurance).

How do we know it’s an issue?

Australian moratorium (ban) on the use of genetic test results in insurance underwriting

Many countries in Europe, the United Kingdom and North America have banned the use of genetic test results in insurance underwriting. In Australia a 2018 Parliamentary Joint Committee recommended an urgent ban.

In 2019, the insurance industry implemented a partial, self-regulated moratorium for life insurance providers (death cover/total permanent disability cover) with the terms below:

- Must disclose their own medical history and that of their first-degree relatives.
- Cannot be asked to reveal family health history beyond first-degree relatives.
- Cannot be asked to disclose genetic test results of first-degree relatives. Cannot be asked to undergo genetic testing.
- Can request favourable policy revision when results demonstrate that a variant has not been found i.e., receipt of a negative test result.
- Can request that the benefits of screening, early diagnosis, or treatment be considered in underwriting where there is a pathogenic variant identified
- Cannot be asked to disclose their personal genetic test results.
- Can be asked for genetic test results but can only be used if relevant to type of cover.
- There is no distinction between clinical, research or direct-to-consumer genetic test results.

Is the moratorium effective?

Between 2020 and 2023 a research consortium evaluated the efficacy of the moratorium by surveying and interviewing consumers, patients, clinicians, researchers, and life insurance underwriters. Consistently, stakeholders reported that they were:

Not aware of the moratorium
Concerned that the limits of coverage were too low (applied to policies <$500K)
Apprehensive about the potentially reversible nature of the moratorium and lack of government oversight.

The final report concluded that the moratorium failed to assuage people’s concerns.

In January 2024, the government asked for public consultation on options to address genetic discrimination in life insurance.

Scenario - A girl named Jane Part II

Watch the video below to see the second part of the genetic counsellor consenting Jane to the research trial by explaining the ELSI associated with genetic testing.