Genomics and genetics, genetic testing, reproductive health, IVF and surrogacy: legal and ethical issues

By Alison Choy Flannigan and James Blok

Genomics and genetics

Genetics is the study of how genes function and are transmitted from parents to offspring. Genomics is the study of all an organism’s genes, known as the genome.

The main difference between genetics and genomics is this: genetics examines the functioning and composition of single genes, whereas genomics examines an organism’s complete set of genes and the interactions of those genes with each other to identify their combined influence on the growth and development of the organism.

Genomics can assist in personal health profiling, disease diagnostics, research and precision medicine.

Legal and ethical issues

Legal and ethical issues arise in relation to genomics, including equity of access, consent, confidentiality, availability for the greater good verses privacy, patient choice and ownership.

Currently, gene technology is regulated in Australia through several laws including:

• Gene Technology Act 2000 (Cth), specifically section 32, which prohibits a person from dealing with genetically modified organisms without a licence or other authority under that legislation;
• Research Involving Human Embryos Act 2002 (Cth), which states only embryos left over from assisted reproductive technology treatments can be used for stem cell research;
• Human tissue legislation, such as the Human Tissue Act 1983 (NSW); and
• Prohibition of Human Cloning for Reproduction Act 2002 (Cth).

While genomics brings the prospect of benefits for patients and the potential to revolutionise diagnosis, screening, prevention and treatment, it also raises a number of ethical challenges:

• Equity of access – should access only be available to those who can afford to pay for it?
• Consent – can a person consent without knowing the full implications of what they are consenting to? With genomics, the boundaries of the possibilities are constantly expanding.
• Confidentiality – sharing patient information is vital to assess the significance of individual genetic variants by comparing them to the norm. Genomics may test the boundaries of consent, particularly when information is known about one person, but could be of significant value to their family members and their health care providers.
• Availability for the greater good and adequate protection of genetic data – what if something is discovered of clinical significance to humanity? The uniqueness of our genetic data means it can never be truly anonymous. Protections need to be put in place to reduce the risk of discrimination based on genetic characterisations.
• Patient choice – many patients have suffered several years of delayed diagnosis. Genomics may result in significant improvement of patient outcomes. In the future, should genomic testing be mandatory for the population to assist with health planning? However, people should have a right to privacy and many people may make the conscious choice not to be provided with information concerning their mortality. Ultimately, the challenge is to enable patients to have the choice.
• Ownership – what if a particular individual's genome is so unique it unlocks a key medical discovery? Should pharmaceutical companies own intellectual property rights and therefore monopoly rights involving the fabric of a person's genome?
• Ethics and religious preferences associated with selection and genomic manipulation – at what point does genomic manipulation become acceptable? To save a life or to save many lives? To save a population? What religious and cultural implications should be considered? How far should patient choice go? For example, medical science is already used in some case relating to the non-selection of embryos with defective genes, or testing for the risk of birth defects – what about choosing the sex of a baby and/or physical or mental attributes?

The time is fast approaching where the development of technology is testing these boundaries. The question is whether the law (and legal protection) will keep pace.

Regulation of genetic testing

Genetic tests are currently available in Australia through health professionals.

The National Health and Medical Research Council considers these three elements to be integral to the appropriate delivery and use of health-related genetic testing:

• professional involvement and education;
• a robust evidence base; and
• consumer information and support.^[1]

For a pathology laboratory to operate in Australia and be eligible for Medicare rebates, it must be:

• National Association of Testing Authorities (NATA) accredited (or equivalent) as required to become an ‘accredited pathology laboratory’;^[2]
• registered as an ‘approved pathology authority’ under section 23DF of the Health Insurance Act; and
• approved as an ‘accredited pathology laboratory’ under section 23DN of the Health Insurance Act.

To operate a centre where pathology specimens are collected and to be eligible for Medicare rebates, the provider must be a current ‘approved pathology authority’ under section 23 DF of the Health Insurance Act, comply with the Approval Principles as defined under section 23DNBA of the Health Insurance Act and be granted an approval as an ‘Approved Collection Centre’ under section 23DNBA of the Health Insurance Act.

In vitro diagnostics

In vitro diagnostics (IVD) are tests done on samples such as blood or tissue that have been taken from the human body. IVD can detect diseases or other conditions, and can be used to monitor a person's overall health to help cure, treat, or prevent diseases.

In Australia, IVD medical devices for human genetic testing, including devices intended specifically for the collection of samples for human genetic testing, are classified by the Therapeutic Goods Administration (TGA) as being high risk. Typically, IVD medical devices are pathology tests (and related instrumentation) used to carry out testing on human samples where the results are intended to assist in clinical diagnosis or in making decisions concerning clinical management. IVD medical devices can also be intended for use by a health professional at the point of care or for use by lay persons for self-testing (note, certain IVD medical devices for self-testing are currently prohibited from supply in Australia).^[3]

Due to the potential to cause unnecessary physical or psychological harm, the National Health and Medical Research Council (NHMRC) considers genetic tests should be ordered where tests are reliable and where there’s a professionally identified, clinical need. Ideally, such tests would be an approved medical genetic test, conducted in a professional health care setting so results can be contextualised appropriate to the tested individual’s circumstances.^[4] Beyond appropriate levels of technical understanding, medical genetic testing also requires the health professionals involved to give due consideration to the wide range of ethical, legal and social issues that can result from genetic testing. These include the potential implications for the individual being tested, and for their genetic relatives.

Medical genetic testing refers to genetic tests offered in a health care setting, at the request of a qualified health professional. In Australia, most DNA diagnostic and susceptibility genetic testing is conducted in specialised clinics where the results are explained, and counselling offered. Medical genetic tests are conducted in an Australian Standard 4633 (ISO15189) accredited environment, thereby adhering to the appropriate quality management system and requirements pertinent for the delivery of medical genetic testing.

Direct-to-consumer (DTC) DNA genetic testing bypasses the medical profession. DTC genetic tests are increasingly available for purchase over the internet through overseas based companies that market their products online.^[5] Currently, there are no specific standards and quality systems in place for DTC tests.

In Australia, the classification of IVD medical devices is based on their intended purpose and the public health risk or personal risk that may arise from an incorrect result.

The higher the potential risk an incorrect result would pose, the higher the classification.

Examples of IVD medical devices with different classifications are summarised below.^[6]

More information about the classification of IVD medical devices can be found in Schedule 2A of the Therapeutic Goods (Medical Devices) Regulations 2002 (Cth).

Following consultation, the Therapeutic Goods (Excluded Purposes) Specification 2020 was remade in the Therapeutic Goods (Medical Devices - Excluded Purposes) Specification 2020 (Cth) to allow a limited number of self-tests to be made available in Australia where there are particular benefits to public or individual health, and the tests can be made safely available. This includes self-tests for hepatitis B and C viruses, some sexually transmitted infections, seasonal influenza and some other serious non-infectious conditions such as diabetes, kidney disease and cardiovascular disease. ^[7]

4A  Excluded purposes—Class 1 IVD medical devices

(1) This section applies in relation to medical devices that are:

(a) IVD medical devices for self-testing; and

(b) Class 1 IVD medical devices; and

(c) not intended to be used exclusively for testing to monitor a disease or condition that has been diagnosed by a suitably qualified health professional; and

(d) not intended exclusively for export; and

(e) not intended to be used exclusively for testing as part of a government health screening program.

(2) The purposes mentioned in Part 1A of Schedule 1 are specified for the purposes of paragraph 41FD(ia) and subsection 41FF(1A) of the Act.

5  Excluded purposes—Class 2 IVD medical devices

(1) This section applies in relation to medical devices that are:

(a) IVD medical devices for self-testing; and

(b) Class 2 IVD medical devices; and

(c) not intended exclusively for export; and

(d) not intended to be used exclusively for testing as part of a government health screening program.

(2) The purposes mentioned in Part 1 of Schedule 1 are specified for the purposes of paragraph 41FD(ia) and subsection 41FF(1A) of the Act.

6  Excluded purposes—Class 3 and 4 IVD medical devices

(1) This section applies in relation to medical devices that are:

(a) IVD medical devices for self-testing; and

(b) Class 3 IVD medical devices or Class 4 IVD medical devices; and

(c) not intended to be used exclusively for testing to monitor a disease or condition that has been diagnosed by a suitably qualified health professional; and

(d) not intended exclusively for export; and

(e) not intended to be used exclusively for testing as part of a government health screening program.

(2) The purposes mentioned in Part 2 of Schedule 1 are specified for the purposes of paragraph 41FD(ia) and subsection 41FF(1A) of the Act

Privacy and the disclosure of a patients genetic information

Under the Privacy Act 1988 (Cth), Australian health practitioners in the private sector are now permitted to use or disclose patients’ genetic information, without their consent, in circumstances where they reasonably believe that doing so is necessary to lessen or prevent a serious threat to the life, health or safety of a genetic relative.

Section 16B(4) states:

(4) A permitted health situation exists in relation to the use or disclosure by an organisation of genetic information about an individual (the first individual) if:

(a) the organisation has obtained the information in the course of providing a health service to the first individual; and

(b) the organisation reasonably believes that the use or disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of another individual who is a genetic relative of the first individual; and

(c) the use or disclosure is conducted in accordance with guidelines approved under section 95AA; and

(d) in the case of disclosure—the recipient of the information is a genetic relative of the first individual.

Duty of care

Under Australian common law and civil law, there is a duty of care owed by medical practitioners to advise of material risks of a procedure or treatment: Rogers v Whitaker [1992] HCA 58; (1992) 175 CLR 479

"A reasonable person in the patient's position, if warned of the risk, would be likely to attach significance to it or if the medical practitioner is or should be reasonably aware that the particular patient, if warned of the risk, would be likely to attach significance to it."

Arguably that legal obligation, as well as ethical obligations, may in some cases extend to providing appropriate counselling when providing the results of genetic tests, particularly if those genetic test reports include a diagnosis of a serious illness or a high chance of contracting that illness.

Patent

The Australian Patent Act 1990 (Cth) (Patents Act) provides protection for registered patents.

In order to be granted a patent, the invention must be:

• New — it must be novel
• Useful — it can be made or used in an industry
• Inventive — it's different enough to what already exists
• A suitable subject matter, known as 'manner of manufacture’.

Patent Offices now lay emphasis on the standard requirement of inventive step (non-obviousness) as the requirement which will do most to retain genetic patenting within acceptable bounds …

The requirement for an inventive step is set out in section 7 of the Patents Act.

The requirement for a method of manufacture is set out in section 18 of the Patents Act.

With the growth of bioinformatics techniques to achieve automated comparison of gene functions between different species, it becomes increasingly difficult to characterise the work as anything other than routine.^[8]

In 1992, a report of the House of Representatives Standing Committee on Industry, Science and Technology suggested that it was ‘unlikely … that [genetic sequence] patents would pass the test of “non-obviousness” [that is, inventive step]^[9]

Patents aren't available for gene sequences, DNA, RNA or nucleic acid sequences that replicate the genetic information that exists in the DNA blueprint or genome of any human or other organism. This is regardless of whether the genetic material was isolated or man-made.^[10]

Many types of biological materials can be patented, but only if they've been:

• Isolated from their natural environment, or
• Have been synthetically or recombinantly produced.

You can also patent methods and processes that use or test biological material.^[11]

You can patent genetically or phenotypically modified biological inventions. This includes genetically engineered:^[12]

• Proteins
• Bacteria
• Cells
• Plants
• Non-human organisms.

In the High Court case of D’Arcy v Myriad Genetics Inc. & Anor [2015] HCA 35 the High Court held that an isolated nucleic acid, coding for a BRCA1 protein, with specific variations from the norm that are indicative of susceptibility to breast cancer and ovarian cancer, was not a "patentable invention" within the meaning of s 18(1)(a) of the Patents Act 1990 (Cth).

By grant of special leave, the appellant appealed to the High Court. The Court unanimously allowed the appeal, holding that the invention claimed did not fall within the concept of a manner of manufacture.

The Court held that, having regard to the relevant factors, an isolated nucleic acid, coding for the BRCA1 protein, with specified variations, is not a manner of manufacture. While the invention claimed might be, in a formal sense, a product of human action, it was the existence of the information stored in the relevant sequences that was an essential element of the invention as claimed. A plurality of the Court considered that to attribute patentability to the invention as claimed would involve an extension of the concept of a manner of manufacture which was not appropriate for judicial determination.

Further information

General practitioners can access ‘Medical Genetic Testing - Information for health professionals’ published by the NHMRC.^[13]

The paper identifies key issues that should be considered in relation to genetic testing, and identifies relevant resources, guidelines, standards, and requirements that are pertinent for the delivery of genetic testing in Australia

Reproductive health and IVF

Assisted reproductive technology treatment is regulated in Australia, including:

• Assisted Reproductive Technology Act 2024 (ACT)
• Assisted Reproductive Technology Act 2007 (NSW)
• Assisted Reproductive Treatment Act 1988 (SA)
• Human Reproductive Technology Act 1991 (WA)
• Assisted Reproductive Treatment Act 2008 (Vic)

Queensland, Tasmania and the Northern Territory don’t have legislation regulating assisted reproductive technology. Providers of assisted reproductive technology in these jurisdictions are self-regulated under:

• NHMRC Ethical Guidelines on the Use of Productive Technology in Clinical Practice and Research; and
• Reproductive Technology Accreditation Committee’s Code of Practice for Assisted Reproductive Technology Units.

Queensland introduced a new Assisted Reproductive Technology Bill on 22 May 2024.

There is also legislation on the posthumous use of material and donor conception in some states.

In broad terms, the New South Wales legislation sets out the process for a person to be registered to provide assisted reproductive technology treatment, and the maximum penalty for those providing treatments and are not registered. The legislation also details the standards, services and disclosure to be provided by facilities, and the maximum penalties if these standards and services are not provided.

The legislation provides the way in which a gamete or embryo may be used and stored, and the consents required for such, as well as time limits to use gametes or embryos.

Records must be kept under the legislation, and the information to be kept, the retention period of the information, and the way information may be transferred and destructed is also listed in the legislation. The legislation also establishes a central register and details the information to be disclosed for the central register. Any information kept for the records or register may be accessed of disclosed in the circumstances under the legislation.

The other jurisdictions are similar.

The National Health and Medical Research Counsel has published Ethical Guidelines on the Use of Assisted Reproductive Technology.

Surrogacy and parentage

Surrogacy

Commercial surrogacy is illegal in all states in Australia. This means the surrogate and her partner cannot be paid for carrying a baby for someone else. While surrogacy is altruistic, the intended parents must cover the surrogate’s expenses in relation to surrogacy, pregnancy and birth.

When referring to surrogacy, there are two different types:

• traditional surrogate – where the surrogate provides their own egg, usually during an artificial insemination process; and
• gestational surrogacy – where all genetic material is provided by either the intended parent/s or a third party.

The relevant laws include:

• Surrogacy Act 2010 (NSW)
• Surrogacy Act 2022 (NT)
• Surrogacy Act 2010 (Qld)
• Surrogacy Act 2019 (SA)
• Surrogacy Act 2012 (Tas)
• Assisted Reproductive Treatment Act 2008 (Vic)
• Surrogacy Act 2008 (WA)
• Parentage Act 2004 (ACT)

Broadly speaking in New South Wales, the legislation specifies what a surrogacy arrangement is and prohibits commercial surrogacy arrangements and the advertising of same, with the maximum penalties set out. The reasonable costs associated with a surrogacy agreement are listed to determine when a surrogacy arrangement is and is not commercial.

The legislation sets out the application process, making of, preconditions for the making of, and effect of a parentage order, including time limits, details to be included in a report from a counsellor, the surrogacy being altruistic, requirements relating to the birth mother and intended parent/s and specific requirements for counselling and legal advice.

Disclosing or publishing information relating to a surrogacy arrangement is prohibited, and the maximum penalty for same is detailed in the legislation. The legislation also contains the rights of access to birth information for certain persons, and the application process for this information.

The legislation in the other states is similar., However, we recommend you obtain legal advice as there are differences in each state and territory. For example, in Victoria, a registered ART provider may carry out a treatment procedure on a woman under a surrogacy arrangement only if the surrogacy arrangement has been approved by the Patient Review Panel.

1. The Patient Review Panel may approve a surrogacy arrangement if the Panel is satisfied of the following—
   1. that a doctor has formed an opinion that—
      1. in the circumstances, the commissioning parent is unlikely to become pregnant, be able to carry a pregnancy or give birth; or
      2. if the commissioning parent is a woman, the woman is likely to place her life or health, or that of the baby, at risk if she becomes pregnant, carries a pregnancy or gives birth;
   2. that the surrogate mother's oocyte will not be used in the conception of the child;
   3. that the surrogate mother has previously carried a pregnancy and given birth to a live child;
   4. that the surrogate mother is at least 25 years of age;
   5. that the commissioning parent, the surrogate mother and the surrogate mother's partner, if any, have received counselling and legal advice as required under section 43;
   6. that the parties to the surrogacy arrangement are aware of and understand the personal and legal consequences of the arrangement;
   7. that the parties to the surrogacy arrangement are prepared for the consequences if the arrangement does not proceed in accordance with the parties' intentions, including—
      1. the consequences if the commissioning parent decides not to accept the child once born; and
      2. the consequences if the surrogate mother refuses to relinquish the child to the commissioning parent.
   8. that the parties to the surrogacy arrangement are able to make informed decisions about proceeding with the arrangement.

Parentage

Further, the right to apply for parentage orders is regulated. The legislation includes:

• Parentage Act 2004 (ACT)
• Surrogacy Act 2010 (NSW)
• Surrogacy Act 2010 (Qld)
• Surrogacy Act 2012 (Tas)
• Surrogacy Act 2019 (SA)
• Assisted Reproductive Treatment Act 2008 (Vic) and Status of Children Act 1974
• Surrogacy Act 2008 (WA)

In broad terms, the legislation sets out the application process, making of, preconditions for the making of, and effect of a parentage order, including time limits, details to be included in a report from a counsellor, the surrogacy being altruistic, requirements relating to the birth mother and intended parent/s, and specific requirements for counselling and legal advice.

While the legislation in the other states is similar, we recommend you obtain legal advice as there are differences in each state and territory.

Stem cell research and human tissue

Stem cell and human tissue is currently regulated under these laws:

• Gene Technology Act 2000 (Cth), specifically section 32, which prohibits a person from dealing with genetically modified organisms without a licence or other authority under that legislation;
• Research Involving Human Embryos Act 2002 (Cth), which states only embryos left over from assisted reproductive technology treatments can be used for stem cell research;
• Human Tissue legislation, such as the Human Tissue Act 1983 (NSW); and
• Prohibition of Human Cloning for Reproduction Act 2002 (Cth).

This article was written with the assistance of Genevieve Tempest, Law Graduate.