Genetic testing of embryos, newborns, children and communities focus for genome group

A lack of public awareness and understanding of the benefits genetic tests can bring to the health of individuals, families and communities has been highlighted in the latest report of the University of Otago-based Human Genome Research Project.

The New Zealand Law Foundation sponsored group has produced a 950-page, two‑volume report covering the genetic testing of embryos, newborns, children and communities, and examining new testing technologies and their implications.

Project leader and Dean of the Law Faculty, Professor Mark Henaghan, says the lack of awareness and understanding is not confined to the general population but is also seen among the medical profession, because many doctors were trained before the concept of genetic testing ever saw the light of day.

"The information that is obtained as a result of genetic testing has the potential to be misused or misunderstood," he says.

"Throughout this report, we provide legal and ethical frameworks to ensure that the potential for misuse of genetic information is avoided as much as possible."

Professor Henaghan says that for any research or study in this area, the overarching principle should be Article 8 of the Universal Declaration on Bioethics and Human Rights 2005:

"In applying and advancing scientific knowledge, medical practice and associated technologies, human vulnerability should be taken into account. Individuals and groups of special vulnerability should be protected and the personal integrity of such individuals respected."

The report continues on from some of the issues raised in last year's report on pre-implantation diagnosis (PGD), raising the need to extend the regulatory framework governing its use, and makes recommendations on public consultation during decision-making. The report endorses the use of 'saviour siblings'. This is where embryos are tested to find a genetically matching sibling whose cells will be used to cure an existing sick child of the family.

One of the report's key findings revolves around the way genetic tests could be incorporated into the current newborn testing programme to look for susceptibility to common diseases such as type 1 diabetes (T1D).

Professor Henaghan says screening newborns for such a disease has the potential to enable the parents to ensure that the environment is appropriate for a child with such a susceptibility.

"The major concern about widespread uses of such screening is that parents may overreact if they find out their newborn has a susceptibility to diabetes and overprotect the child," he says.

"Our own research, carried out by Dr Kerruish for this report, showed that the group of parents who knew their newborn had an increased risk of T1D were in fact lowest on the anxiety scale in terms of how they related to their child."

The latest report recommends that particular attention must be given to minimising risks to newborns because of their particular vulnerability, such as by having clear policies on the retention and use of samples taken at birth through screening programmes.

Moral and ethical issues are raised in the section of the report dealing with genetic testing on children.

There is general consensus that it is both ethically and legally responsible for parents to test children for conditions for which, if detected at an early stage, the child can be provided with an environment best suited to coping with the disease.

The main controversy involves late onset diseases for which there is no effective cure – such as Huntington's disease. Child's rights advocates argue that because testing offers no immediate benefit to young children, the decision should be left to the children once they have sufficient understanding.

Professional guidelines vary on this, although geneticists appear more reluctant than physicians, parents and the general public to test minors, particularly where there are no medical benefits.

Professor Henaghan says it is vital that GPs and other health professionals know more about genetic testing and genetics services in New Zealand so they can better facilitate informed consent, know when to refer patients for testing, and be able to offer some degree of genetic counselling if required.

The report covers the issue of genetic testing of whole communities, a practice which provides significant scientific data for analysis of the cause of diseases. The 'warrior gene' controversy shows how the information from such research can be released in ways that have unexpected consequences for communities. The need for the establishment of a 'Maori Ethical Framework for Genetic Research' is highlighted in the report.

The potential impact of new and emerging genetic testing technologies, such as microarrays, allow many genetic tests to be done simultaneously on one genetic sample, meaning mutations that used to go undetected can be identified.

New technology called 'array comparative genomic hybridisation' (aCGH) is another major advance in the field of cytogenetics. It can detect differences in DNA at hundreds or thousands of points in the genome simultaneously and offers tremendous promise in prenatal detection of genetic alterations leading to serious genetic conditions.

These new technologies raise ethical issues such as the possibility of 'incidental' findings – unwanted findings or findings of unknown clinical significance – and the report recommends how such findings should be handled and relayed.

"Overall, the benefits of genetic testing for the health of individuals and populations outweigh the potential harms and we hope that the frameworks in this report will minimise the impact of those harms," says Professor Henaghan.

Work has already begun on the HGRP's next report, dealing with the effects of gene patents on health practice and research, genetic privacy, and pharmacogenetics – the tailor-making of medicines to match a person's genetic make-up.

Main findings
Newborn screening
Information about newborn screening should be given to parents by or during the third trimester, and again before samples are taken from the newborn. They should be informed about the screening process.
Genetic tests could be incorporated into the current newborn testing programme to look for susceptibility to common diseases such as type 1 diabetes (T1D).
Genetic testing on children
Genetic testing of children who lack capacity to consent to such testing for non-medical reasons should be treated with caution.
Where there is a lack of evidence about what the test results may signify for the child's health, this uncertainty is best dealt with by waiting until the child is able to make personal choices.
The report recommends setting up a register of people who have undergone such tests so they can use it later in life to access their results should they wish.
Community genetics and the establishment of a Maori Ethical Framework
Genetic testing of whole communities offers a way of picking disease trends within communities and showing the interplay of genetic and environmental factors.
Long-term studies hold out the hope that patterns of living combined with the genetic markers could lead to medical break-throughs to improve the health of whole communities.
The main concern is that once the community gives up the genetic material for study they lose control of information on that material and may be harmed by the ways in which the outcomes of the research are interpreted or released. An example would be the infamous 'warrior gene' headline when it was suggested that a certain gene that was prevalent in Maori predisposed people to act more violently and aggressively.
Researchers need to explain to the community what the research is about, the potential likely findings and how they would be released so the community can make a choice as to whether or not to be involved.
Minimisation of harm can be achieved through inclusion of Maori as partners and participants in the design, implementation, management and analysis of research about Maori or Maori health.
The report recommends the establishment of a Maori ethical framework for genetics to be administered by a Maori ethics committee or similar body should be established.
New Genetic Testing Technologies
New genetic testing technologies, such as microarrays, allow many genetic tests to be done simultaneously on one genetic sample, meaning mutations that used to go undetected can be identified.
As the costs come down microarray technologies will likely supersede existing cytogenetic technologies as a first-line prenatal test, offering faster and potentially more detailed screening for disorder-causing changes.
New technology called 'array comparative genomic hybridisation' (aCGH) is another major advance in the field of cytogenetics. It can detect differences in DNA at hundreds or thousands of points in the genome simultaneously and offers tremendous promise in prenatal detection of genetic alterations leading to serious genetic conditions.
aCGH raises ethical issues such as the possibility of 'incidental' findings – unwanted findings or findings of unknown clinical significance - and how these should be handled and relayed.
Extending the regulatory Framework for Preimplanation Genetic Diagnosis (PGD)
The current limitation on the use of PGD to select a saviour sibling, which requires there to be a familial genetic disease (one that runs through the family), is too narrow and should be extended to any serious or life threatening condition.
The guideline which says the planned treatment should only utilise the cord blood of the future sibling should be removed but if there is to be ongoing donation of blood, tissue or bone marrow then it is good medical practice to require the appointment of an appropriate qualified advocate for the donor child.
A register should be set up to record the births of all children born to supply blood tissue to a sick sibling so the effects on children who have been donors for their siblings can be studied.
Public consultation in decision-making
The public needs to be involved in the development of guidelines for the Advisory Committee on Assisted Reproductive Technology (ACART).
The committee needs to be transparent in its reasoning and decision-making.