PGD Draft Guidelines released

NZORD's submission on the draft PGD Guidelines - November 2004.

Extract from the NZORD's submission in response to the consultation document published by the NECAHR committee (link no longer available).

The views expressed reflect considerable discussion among out network over several years, as well as in recent months in particular, but does not presume to speak on behalf of all groups. See appendix 1 for more detail on our consultation process.

OverviewThe discussion document indicates a well researched approach to the state of the science and the ethical considerations for PGD.

The resulting draft guidelines present a broadly acceptable framework that:
1. Allows the procedure in clearly defined circumstances
2. Requires a case-by-case approval in other situations
3. Sensibly adopts an open definition of “serious” and puts in place a process for ascertaining that
4. Ensures high quality information is provided to those seeking PGD
5. Requires detailed genetic counselling processes to precede informed consent
6. Is clear about prohibited applications
7. Has provision for accreditation of and reporting by clinics
8. implies, through the genetic counselling process, informed consent, non-directive and non-judgmental information, and respect for the autonomy of parents in decision making. However we would prefer that these important principles are spelt our. We also have significant reservations about two provisions regarding the interests of third parties, stated as requirements in the patient information and genetic counselling sections.

NZORD strongly supports the completion and approval of these guidelines so that a positive, empowering and life-affirming technology can be made available to New Zealand couples as soon as possible.

A paramount consideration is the right of couples to take advantage of procedures that will improve the health and wellbeing of their family unit and their future children. This is an important human right that must not be restricted lightly, and should be limited only when there are compelling reasons to do so.

We note that in a busy year for New Zealand PGD clinics, once the system is up and running, the number of procedure undertaken is unlikely to exceed 50 or 60 per year, and only in cases where serious outcomes are a significant risk. This is an important consideration in the public debate where some commentators imply that enormous numbers of such procedures might be undertaken for minor cosmetic or trivial reasons.

We emphasise that in all cases of familial single-gene or sex-linked disorders, the family will already have the experience of one child or a near relative with the disorder. PGD will offer them choice to take control over their reproductive options and avoid what is often a devastating condition, recurring in their family.

Although much discussion has been raised about the destruction of embryos as a matter of concern with PGD procedures, it should be noted that in excess of 250,000 fertilised embryos are destroyed naturally each year in New Zealand as a result of failure to implant in the uterus. Many people will consider that the fate of a few hundred embryos left over from PGD procedures each year, is not the major ethical concern suggested by some.

We strongly endorse the principle that government should pay for the procedure to ensure equitable access, in much the same way as it currently funds access to IVF treatment for infertile couples. Additional funding will be needed and costs should not be met by encroaching on existing IVF budgets. We note this issue is to be decided once the guidelines are confirmed.

Within this broadly acceptable framework we note the following issues that have clearly impacted on the guidelines:

1. Fiscal considerations, indicated by the report and the Minister’s letter about possible government funding of PGD, seem to have had some influence alongside the important clinical, technical and safety issues, in producing a specific and limited range of approved circumstances. It should be acknowledged that any limits placed on access to PGD for fiscal reasons, do not imply that PGD outside of those criteria would necessarily be unethical. For example, those who may prefer PGD but do not find prenatal testing alone to be “unacceptable”.

2. Ethical debates have influenced some parts of the guidelines, especially in relation to information supplied and discussion about impact of the procedure on others. These provisions run a serious risk of implied judgment and directiveness in the counselling process. The overriding consideration must be the interests of the particular family, within the wider ethical framework.  Adding in the attitude or interest of third parties is not a wise or ethically acceptable move.

Detailed submission on the guidelines by paragraph number

1. Allowing clinics to offer the procedure where these criteria are met is a sound way to manage the process. Avoiding case-by-case review of single gene disorders with family history and a known mutation will reduce time and stress.

1.2 and 1.3 The combination of these two clauses is the only practical way of identifying disorders that may be subject to the procedure. Any attempt to produce a list would be fraught with difficulty given that there are over 400 single gene disorders, and some added to the list on a regular basis. The use of the 25% and 50% will cover all the dominant and recessive conditions, and the use of the words “serious abnormality” will ensure (via the counselling process) that all the appropriate objective and subjective criteria are thoroughly considered.

1.4 Setting a restriction based on acceptability of prenatal testing alone, is probably justified at this stage given the technical complexity and likely fiscal considerations. However this should not be seen as an ethical restriction (PGD actually reduces the ethical dilemmas versus pregnancy termination) and provision should be made for a review of this when experience, technology and cost considerations change over time.

2. Including familial sex-linked disorders with the same approval criteria as for single-gene disorders, is supported with the same basic arguments and qualifications as expressed in the paragraphs above.

3. and 4. Familial chromosome disorders and aneuploidy screening. We note these are to be subject to case-by-case approval by the committee, and we read it that technical issues are the basis of this. NZORD suggests that provision is made for the committee to publish information to PGD providers as these issues are addressed and resolved, and indicate to clinics which procedures may be approved by delegation.

5. Serious genetic disorders.
This is a most important section and NZORD strongly supports the approach taken of an “open” definition. We reject the concept of a published list of specific disorders. That would be unworkable as there are potentially so many of them, and new ones identified on a regular basis. Such an approach would also impinge on autonomy and informed consent by a list that would in essence be judgmental and directive about what is included, and what is not.

Within the perception of “seriousness” there are a number of objective and subjective criteria that could be considered. Key concepts in ethics are autonomy and informed consent. The information and counselling processes should ensure all information and issues are thoroughly canvassed, but in the final analysis it must be the choice of the couple to make the decision autonomously and without pressure from any particular viewpoint.

The wording of this section should be amended to reflect the decision making role of the couple as paramount in this process, as well as the existing obligation on the provider to ensure this has been traversed in the genetic counselling process.

6. HLA tissue typing.
This is another topic of importance and controversy. But when analysed carefully the issues of parental autonomy and their human right to improve the health of their family with the use of available procedures, are unbeatable arguments in our view.

The major arguments against “saviour sibling” procedures are based on theoretical concepts of slippery slopes and devaluing the new child as a treatment for the ill child. None of these arguments have found any solid ground in actual experience, when used in other ethical debates about reproductive or preventative technologies.The views and experiences of families faced with this prospect are a strong counter to such arguments.

The recent UK Court case which confirmed this procedure as a human right for the parents, should reinforce the argument strongly in favour of this section of the guidelines permitting this procedure.

7. Follow up studies. We wonder if it was the intention to encourage follow up studies of all PGD procedures, rather than just for HLA matching, and we suggest the wording be altered to reflect this desirable outcome. The procedures cannot be presumed to be entirely free of any risk, even though they will overcome other much more serious ones, and long term follow up should be encouraged.

8. Other conditions. We support the option for the committee to consider approval for other conditions that are not covered by these guidelines. Changes in technology and genome knowledge are bound to produce options that are very close to but slightly different from matters considered here. There should not be any need to revisit the whole debate each time.

9. & 10. Patient information and 11. & 12. Genetic counselling.
The provision of information and the requirement for genetic counselling are supported as essential elements of the process, and we endorse the capacity of genetic counsellors in New Zealand to provide the “gold standard” of non-judgmental, non-directive provision of information, and supportive counselling that respects and endorses the autonomy of the couple, and works to achieve truly informed consent.

But both these areas produce some problematic wording in the draft guidelines. The sections we take issue with are 10.4 and 12.11 about testimony about the range of experiences of living with the condition, and impacts on those already living with the condition.

It is acceptable for couples to have access to testimony of others if they choose but not acceptable for this to be required in the process. To make it mandatory to add in information that may be intended to influence the outcome, is contrary to the principle of non-direction. The wording of 10.4 should be deleted.

Substituting an opportunity for the couple to obtain further information or testimony if they wish, about individual and family experiences, would be an acceptable alternative. But in the context of PGD, the family will already have experience of the disorder in their children or among their close relatives, or be faced with problems like repeated miscarriages. The procedure could not be done without knowing the familial mutation. They will be fully aware of the impacts of the condition and the specific experience resulting from their particular mutation.

To be required to consider testimony about the “full range” of experiences of others would not only be irrelevant and unnecessary, but can only be for the purposes of adding in information that is designed to proselytize and influence. This would be contrary to best practice in genetic counselling and unethical. Some people will also find such a provision objectionable as there will be an awareness of a political agenda that may be influencing the type of information provided.

The provision in 12.11 for the counselling process to cover the “impact on those who are already living with the condition that is being selected against” is also a matter of concern to many people in the NZORD network. People have expressed concern that this would introduce the views of third parties into what is an intensely personal and difficult decision to make.

The status of those living with the condition, and any impact on them of a couple’s choice about a just-fertilised embryo, (let alone impacts on these third parties of choices the couple might make about an affected foetus), are not relevant to the counselling process. To introduce it would destroy the essential elements of non-judgment and non-direction, by introducing elements designed to do just that through attempts to influence or impose burden of guilt. It would reduce the autonomy of the parents by implying other interests are involved in their choice, yet a person living with the condition has no more consideration in the counselling process for a couple about PGD, than I have, as a seventh son, about the choices of those who choose to limit their family size.

In addition, there will certainly be a range of views on this matter, among those living with the condition.  Some would strongly oppose PGD yet others would strongly support the parents’ right to choose. If some interest was to be acknowledged, which view, or all, would need to be considered in this “impact assessment”?  As well as being wrong in principle, it would be completely impractical to implement.

Many parents would find it deeply offensive for this section to be a mandatory part of the process of genetic counselling prior to PGD, with all of the intrusion and direction that is introduced into a very private and personal decision, and especially as they will also have knowledge of the impacts of the condition in their own family. The wording of 12.11 should be deleted from the guidelines.

13. Prohibited applications.
NZORD supports the clear process of indicating those procedures that are not permitted.

We note that the HART Bill, just passed, prohibits sex selection except for sex-linked diseases, and 13.1 is consistent with this. While this is completely understandable and supported in the context of global problems, we submitted on that Bill that sex selection e.g. for family completion, is difficult to argue against on ethical grounds in the New Zealand context. The restriction in that Bill and these guidelines seems excessive when this choice can legally be made in Australia, and New Zealand families clearly will access the procedure there. The restriction on sex selection seems based on political rather than ethical considerations.

We support the prohibition on altering the genetic constitution of an embryo. There is no indication that we are aware of, of any procedure that is likely to offer any beneficial outcome from such an attempt.

NZORD also approves of the prohibition in 13.3 on selecting embryos with the same genetic abnormality seen in a parent. The idea of selecting to ensure the disorder is passed on is a matter of some debate and is supported by some disability activists. It is important to note that such an approach offends against best ethical practice as described in all relevant literature as it willfully imposes a disadvantage on another, for the “benefit” of the parents, and limits the future autonomy of the child.

Appendix 1. NZORD’s discussion/consultation process.

Since June 2001 NZORD has published 36 press statements, submissions, opinion pieces and editorials. These are all listed in the News and Issues section of our website www.nzord.org.nz 20 of these publications have stated clear positions endorsing the use of innovations in genetics, biotechnology and other technologies, to prevent disease and disability and to improve human health, or discussing aspects such as ethics and safety in the application of these technologies. Presentations on these topics have also been given at a variety of conferences and discussion forums.

The mandate for our approach was established at our inaugural conference in September 2000, attended by more than 80 people, and strongly reinforced at our second conference in May this year.

All of our publications have been noted in regular newsletters sent to our (currently) more that 330 strong distribution list, that has roughly two-thirds patient/family/support group contacts, and one-third researchers and professionals. Of course the researchers and professionals are also parents and family members, and some affected by various diseases and disability issues.

Over this same time period we have received frequent feedback from within this wider NZORD network that consistently endorses the stance we have taken on these matters. We have been regularly supported in the approach we take, and often praised for the carefully considered arguments we make. Disagreement with our broad themes or specific points has been extremely rare. Feedback from questions and discussions at presentations, and from unsolicited responses from the public at large, further reinforce wide support for our stated positions.

We do not think it is too bold to claim that among those with a direct interest because of significant disease or disability in their family, or because of a broader interest in the social impact of health issues, there is overwhelming support to maximise the safe and ethical use of genome knowledge, biotechnology, and other technology, to prevent disease and disability and to improve human health. On a closely related matter, we note the Bioethics Council’s conclusion that the insertion of human genes into other organisms was seen as acceptable by the majority of New Zealanders, when the purpose was to relieve suffering of those affected by serious diseases.

In May this year our second conference with over 90 attendees involved two full days discussion on partnerships for progress on rare disorders. We explored basic research and translation to therapy, the role of patients, families and support groups as “experts” in their disorder and opportunities for their collaboration in research and treatment. A full day of this programme was dedicated to biotechnology, genetics and their impact, with presentations from 12 speakers (8 professionals, 4 family members). Half of this day was a special focus session on pre-implantation genetic diagnosis.

Four discussion groups that included a mix of patients, family members, support group leaders and professionals, gave detailed consideration of PGD with a wide brief to canvass the technical, ethical, political and safety issues involved. The report-back session indicated a strong consensus that PGD is a safe, reliable and empowering technology that offers choice to at-risk couples to avoid recurrence of serious disorders in their family, and that it should be made available to New Zealand couples as soon as possible, with government funding to ensure equitable access to the procedure.

In addition, over the past two years, in my role as Executive Director of NZORD, I have had detailed in-person or email discussions with several dozen people here and overseas who have either wished to use the procedure, have actually used it to gain a healthy child, have made use of pre-natal testing as a control measure, or who had the experience of severe disease and disability in their family at a time when no preventative technology was available. This has given me the opportunity to canvas a range of issues about how PGD is perceived by those with a close and direct interest. Many of these discussions have generated responses to the issues put forward by critics of the technology (designer babies, devaluing disability, search for perfection, etc). They have also considered PGD versus pregnancy termination after pre-natal testing, aspects their ill or disabled child adds to the debate/decision, and issues related to babies that died in infancy, or repeated miscarriages they have faced. The issue of other people’s interests has also been specifically discussed with many of them.

The draft of this submission has gone out to our distribution list for comment. There have been several endorsements of it, and no criticisms.

We are confident that the submission we have made reflects the interests and concerns of those directly affected by serious disease and disability in their family, their commitment to love and support their ill or disabled child or family member, and their strong determination to avoid a repeat of the condition wherever possible.

John Forman
Executive Director.

Further reading:
Discussion on public perceptions of PGD from our NZORD archive (Pre-implantation Genetic Diagnosis - Nov 2003).