Charities Commission Registration CC22512

New Zealand GenETHICS Essay Competition 2006 Winner Sasha Srivastava, Otago Girls' High School

The GenETHICS essay competition for secondary school students in years 11, 12 or 13 is jointly sponsored by NZORD, the Royal Society of New Zealand and the Bioethics Council. It is the third competition in as many years and reflects the importance the three organisations put on good public discussion of the ethical issues associated with genetics and new technologies. Cash prizes for the winning entry and the runners-up are provided by NZORD. The Bioethics Council funds finalists' travel to the judging and the Royal Society provides significant educational and administrative support.

This year's topic was Babies’ best interests or mothers’ choice? Which should prevail?

GenEthics 2006 : New Born Screening

Medicine’s aim is maintenance of well being and sustenance of life. Starting early, addressing issues upfront is what newborn metabolic screening_(NBMS), does. The Guthrie Card Test forms the basis of NBMS. Blood drops collected from a pin-prick to the side of a baby’s heel onto absorbent paper. Dried blood spots are subjected to mass-spectrometry where individual molecules are separated by weight. Additional to identifying compounds by mass, quantity also is revealed.

In inherited metabolic diseases, specific enzymes that facilitate breakdown of amino-acids, or oxidation of fatty-acids to energy, do not function, resulting in accumulation of metabolites. Once in excess these become poisonous. The metabolites are identified by the mass spectrometer, indicating likelihood of metabolic abnormalities.

New_Zealand_Newborn_Metabolic_Screening_Programme tests about 55,000 babies per_annum. Guthrie Card Tests are carried out 48-72 hours after birth. Approximately 30 abnormal cases are found allowing timely corrective action, preventing mortality or life-long disability.

Objective of NBMS is to pick-up rare metabolic diseases early, allowing treatment initiation before irreversible neurological damage, mental retardation, organ-damage occurs. Timeliness is paramount in preventing morbidity &life-long disability. 1:1500 babies will have a disorder detectable by NBMS. 5% of Sudden Infant Deaths are attributable to undiagnosed metabolic conditions. Parents with no family history, even earlier having had healthy children can still have babies with abnormalities. This is more often the case, besides babies with disorders seemingly appear normal. Family history of abnormalities is not generally found because these conditions are Autosomal-Recessive. Metabolic abnormalities can sometimes result from spontaneous mutations.

In some instances even if treatment and support systems for a condition are not established, knowledge of a condition can help in family planning issues. Overall, whilst weighing the possibility of adding a condition to routine-screening profile, consideration of all costs versus not including it, must be made.

DNA testing examines protein sequences that form genes, confirming or refuting a genetic condition or a possible pre-disposition to that condition. Extensive though our Genetic knowledge, not all possible mutations causing abnormalities have been identified. Example, Cystic fibrosis has over 1000 detected mutations; newer forms could be missed . Metabolite testing, cheaper, simpler, more amiable to routine mass application, detects the presence & quantity of abnormal metabolites . Multiple substances are screened for simultaneously. Futuristically DNA Micro-Array technology is likely to become inexpensive and applicable for Newborn_screening.

Paediatric_Society_of_New_Zealand has recommended “Expanded” Newborn_Screening. This implies use of Tandem_Mass_Spectrometer_(MS/MS) which detects Amino-acids and Acylarnitines.

Starting with antenatal sessions NBMS is introduced to the mother-to-be. Screening is offered to all NZ newborns free-of-cost. Pre-test information and health-professional face-to-face counseling is available. Screening is strongly recommended, followed by an informed consent form, worded in simple understandable language, being presented for signature to the mother. Alternatively Oral concurrence is recorded in a Register.

In NZ the right to be fully informed and then make an informed choice about any medical procedure is engrained in the_Code_of_Health_and_Disability_Consumer_Rights. Informed Consent is viewed as a process rather than a-single-point-in-time-action, culminating in a signature on a form.

Being adequately educated and informed about NBMS, NZ recognizes that an individual mother is in a unique position to decide whether a test is in their interest or not. A mother in making a “Surrogate choice” on behalf of her baby has the right to choose whether or not she wants her baby screened. However there is current on-going debate on whether consent for NBMS is necessary.

The situation for NBMS in the United States is different. With exception to two States NBMS is mandatory, by Law.

Having been adequately educated and informed about the objective of NBMS, Jude refuses testing for her baby. By so doing she is leaving open the chance for an existing condition remaining undetected. Her baby could die suddenly or be effected life-long by severe debilitation. Faced with a major health crisis in her baby, Jude will then approach the State Health Board, demanding treatment. When that does not help her baby will fall into life-long welfare support and dependency at horrendous cost. This scenario is nothing short of catastrophic for the baby, parents and Society as a whole. All of this avoidable by a non-invasive test without adverse side-effects, no personal cost. Infact just a timely pin-prick.

When Jude’s City Council decides more money is needed for improved garbage collection and drainage, her rates will go up. She will not have the option of opting for dirtier streets. Auckland roads need major development. Jude pays a 5 cent per/litre tax on petrol. She is not offered an option to sign an undertaking that she will never use Auckland roads and not pay that levy. Yet when it comes to averting the possibility of major health issues for her baby, Jude has a choice? On the face of it NBMS should not be an issue open to consent. NBMS is clearly in the best interests of baby.

When asked for consent, Jude consciously or unconsciously makes a Gain-Loss calculation. The gain obviously is confirmation of not having any abnormality. Loss is learning that baby does. She probably wonders if learning the good news is worth risking, hearing the bad!

Delve deeper and we arrive at the concept of Autonomy –“the individual-right-to-choose.” NBMS after all has not been sought. It has been offered. Jude’s mental capacity is not diminished. Her reasoning as far as she is concerned is good. Why should it be struck-down because it is perceived to be incorrect?

Denying the possibility of disease in her baby, Jude enters the realm of “DENIAL”-the “aura” she refers to. Denial is a critical, yet fragile component of well-being. Should it be disregarded? Most people are not risk averse but LOSS averse. When faced with a certain gain they tend to view aspects positively. But when the possibility of a loss or adverse outcome is considered, people sometimes, sub-consciously, back away.
I personally will allow screening. I recommend it to all mothers. I consider it foolish not to test. But I would not want to be forced into anything. And that is why I respect the option of making an informed choice as opposed to not having my views, no-matter how flimsy, considered, in a matter where I am the focus.

Respect Jude’s choice., we must. Then probe and explore her reasoning. Address her insecurities and misunderstandings in the matter. Persistent refusal should be honoured but also not treated as,”end-of-discussion.” Further effort in convincing Jude that the principle of Beneficience as applicable to her baby clearly favours testing and that she is only providing Surrogate-Consent should be made. That said, Jude’s right-of-choice should stand supreme.
Individual right-of-choice is as fundamental as individual right-of-existence.

Tandem Mass Spectrometry is fast advancing. Currently 50+ conditions can be detected. Several have no treatment and when detected will serve no purpose other than provoke anxiety. However it makes sense to test for all conditions that do infact have some treatment avenue available. Albeit these conditions are rare, evenso if present, there is gain in early detection. Lynne wants to take no chances with the quality of her child’s health, wanting “all” detectable conditions to be tested for. “ALL” conditions falls outside the per-view of criteria for inclusion in even Supplemental Testing profiles, however carrying out a more extensive screening will ideologically foster well for her baby.

In a mass state funded program there are limitations of cost. Lynne must realize that if there is the slightest indication suggestive of any condition, her Paediatrician will pursue it. Lynne’s request is notable but it is not feasible for fiscal considerations, to offer everyone “Supplemental-(+) Testing”. Should Lynne insist, she should be allowed Supplemental-(+) testing at her cost from a suitable laboratory.

Screening for conditions where there is treatment available but not funded by the Government should be included in the screening profile. Following detection, other financing options, difficult as they may well be, is the prerogative of the affected party.

Adult onset conditions like susceptibility to Coronary Artery Disease and Diabetes Mellitus escape detection until organ damage has probably taken place. If detected at NBMS stage, corrective life-style changes can be enforced, most likely altering adverse developments. Testing for these conditions is highly recommended and well worth the cost. However currently, contrary opinion recommends waiting until 18 years. The limiting factor today is that, at screening stage, these conditions are at best “predictive”, not “Diagnostic”. Assuming detection of susceptibility, of such a condition, a parent in-conjunction with qualified health-care professional’s help, should introduce changes and treatment into the baby’s life, informing it appropriately about the condition. Young children are surprisingly adaptable and responsive. The positive-effect of corrective measures will far out-weigh the inevitable anxiety perceived. Again this should be restricted to conditions for which beneficial aspects or treatment exist.

Never doubt that small, highly focused, well meaning actions can improve the way we live and survive. Indeed they are the only things that ever have. Our endeavour to continuously push forward medical frontiers will ensure betterment of our well-being and sustenance of life. Today, better than yesterday. Tomorrow better still.