Should whole-genome sequencing be used in public-health programs which screen newborns for rare conditions? That question is likely to stir debate in coming years in many of the 60+ countries that provide newborn screening, as whole-genome sequencing (WGS) becomes increasingly affordable and reliable.
Newborn screening programs -- which involve drawing a few drops of blood from a newborn's heel -- have been in place since the late 1960s, and are credited with having saved thousands of lives. Advocates of routine WGS argue that the new technology could help detect and manage a wider array of disorders.
But routine whole-genome sequencing raises ethical, legal and social issues that should be weighed carefully, according to an article by researchers at McGill University in the journal Science Translational Medicine. "Any change in newborn screening programs should be guided by what's in the best interests of the child," says Prof. Bartha M. Knoppers. "We must also tread carefully in interpreting the scientific validity and clinical usefulness of WGS results."
The researchers outline the following considerations:
What information to report? Vast amounts of information will be generated-- including incidental findings such as paternity information or reproductive risks. What's more, health-related information can include non-validated or poorly predictive results, or may involve adult-onset conditions.
Impact on health care systems. If WGS in newborn screening is implemented, public health care systems would have to be revamped to handle the massive amount of information generated. The added information could also lead to more false-positive results, imposing a big burden on families and on the resources of a health-care system.
Mandatory vs. voluntary. Most newborn screening programs currently are mandated by law or use presumed parental consent. Should parental consent be required for screening that doesn't stand to directly benefit the infant during childhood?
Educating health professionals and parents. Many doctors have little training in genetics, so health professionals and parents will need more education in genetics and genomics.
Data storage. Should raw data be stored in the patient's file? If so, under what conditions and for how long?
Insurability. Data obtained through WGS newborn screening would be part of the medical record, potentially leading to issues regarding insurability.
"Without clear policy direction and public discussion on the possible future integration (or not) of WGS into newborn screening, more parents in years ahead may choose to pay for whole-genome sequencing through private testing services," says article co-author Karine Sénécal. "Medical and public education programs need to be put in place so that people understand the limits of whole-genome sequencing."
The ethicists drew connections and distinctions between the following three different ways of reducing SSB consumption: (1) restricting sale of SSBs in public schools, (2) levying significant taxes on SSBs, and (3) prohibiting the use of Supplemental Nutrition Assistance Program (SNAP; formerly food stamps program) benefits for the purchase of SSBs.
A ban on school sales of SSBs and, to a lesser degree, taxation of SSBs, score well in terms of fairness, the ethicists argue, as they apply across demographics, while the proposed food stamp ban targets SNAP participants exclusively. Such a practice, proposed in California, Florida, Missouri, Wisconsin and Texas, would not “pass ethical acceptability.”
The authors dismiss the objection that a sales tax is unfair to lower-income individuals, saying “regressive taxation becomes most troubling from a fairness perspective when applied to basic necessities—such as clothing, housing, or food. Sugar-sweetened beverages, containing no nutritional value, are not a basic necessity.”
The authors address the “nannying” concerns squarely by highlighting that under all of the policies considered, SSBs remain widely available to the public. They also emphasise that not all liberties are not of paramount importance. Governments have essential duties to protect our fundamental freedoms. However, in providing disincentives to unhealthy products such as SSB, the government simply is discouraging the consumption of less healthful products. The personal pleasure to be derived from consumption of SSBs is absolutely worthy of consideration, and yet such pleasure does not rise to the level of a fundamental freedom.”
University of Sydney academic Christopher Mayes argues that Singer and Callahan falsely assume that obesity is determined by the foolish decisions of autonomous individuals. Mayes refers to various studies that point to complex socio-cultural influences, rather than free choice, being at the heart of the obesity epidemic.
One leading researcher in the field, US academic Kelly Brownell, has written that "environmental conditions can override individual physical and psychological regulatory systems that might otherwise stand in the way of weight gain and obesity, hence undermining personal responsibility, narrowing choices, and eroding personal freedoms".
Similarly, peadiatrician and researcher Jennifer Cheng wrote in the New England Journal of Medicine, "People born into lower social strata are more likely than their contemporaries in higher social echelons to be born small and then to experience rapid catch-up growth leading to overweight and obesity...Making the right decisions can be extraordinarily difficult for families, because they have little true choice".
Mayes concludes that the fight against obesity should focus on broad social and structural policy, rather than punishing individuals: "In light of this public health research, the second question – Are the strategies targeting the individual ethically justified? – must be answered in the negative."
Oxford bioethicist Julian Savulescu has again sparked controversy, this time advocating for the genetic screening of embryos and foetuses for intelligence genes.
In article published Wednesday in The Conversation, Savulescu referred to new research that identified specific genetic factors that contribute to low intelligence. A recent study, conducted by researchers from Cardiff University, showed that children with two copies of a common gene (Thr92Ala), together with low levels of thyroid hormone are four times more likely to have a low IQ.
If we screen our young for these predispositions, Savulescu claims, we might be able to address them before they have lasting effects on children's intelligences. "Given that whole genome analysis is likely to be used in the future, why not use the [predictive genetic] information that is available to try to at least start off with a higher chance of a better life?" he asks.
If we can identify a predisposition in a foetus for low intelligence, we could intervene early with procedures like thyroid hormone supplementation. Savulescu believes such intervention to be a moral imperative: "If we could enhance their intelligence...we should".
He also argued that IVF embryos should be screened for intelligence genes: "In my view, we ought to test embryos for such gene variants."
"A second reason why this Court needs to be cautious and scrutinise these arrangements carefully is the philosophical argument that children who are born to women under these circumstances can be seen to be either abandoned by their birth mothers or indeed crassly sold by their birth mothers. The Court is rarely given any information about the circumstances under which the child might otherwise live if it did not move from the birth mother to people such as the present applicants..."
The judge continued:
"Whatever things people say about the future and their intentions, one has to be somewhat cynical about just how those things will unfold for a child born into this commercial arrangement. This is a new area for the law in an environment where science is far ahead of what lawmakers seem to be contemplating. I have no idea what this child will face in 15 years time if cultural issues arise or his issues about identity become a crisis. I have no idea what would happen in the event that the birth mother suddenly changed her mind and wanted to have some involvement in the child’s future."
UK paediatricians want the government to allow “brain-dead” newborns to donate organs. An article in the journal Archives of Disease in Childhood claims that many young lives could be saved every year if the rules were changed. There is "significant uncapped potential" for newborn organ donation in the UK, they believe.
"For an infant awaiting a heart transplant, only a small-sized infant organ can be used, whereas as children approach adolescence, an adult organ becomes a viable option," the researchers say.
Under less rigid criteria in Europe, it is possible to transplant organs from new-born infants, so these are sometimes used in the UK. Dr Richard Kirk, a paediatric cardiologist told the BBC:
"They would be transplanted and home if the UK system was the same as in other countries around the world. There is a crazy double standard operating - it's forbidden to declare a baby 'brain stem dead' in the UK and yet no-one minds us flying to Europe, where the doctors are allowed to diagnose brain stem death, and bringing the donated organs back to the UK to use. Where is the sense or ethics in that?"
Currently using organs from brain-dead children aged between 37 weeks and two months is banned. Donation after cardiac death is permitted, but for practical reasons this option is seldom used. Guidelines written by the Academy of Medical Royal Colleges in 1991 say that it is “rarely possible to confirm death using neurological criteria in infants under two months of age”. Since only organs from dead donors can be used ethically, therefore, UK paediatricians have been told not to transplant these organs. However, it is possible in Australia and the US.
Even if the criteria were changed, many bereaved parents would still refuse to donate their child’s organs. However, argues bioethicist Greg Moorlock in The Conversation, “A shift to this kind of approach with young babies would provide consistency, but would also provide grieving parents with additional options to find something positive in the death of their baby.”
A recent study in the Journal of Medical Ethics has found that in Belgium decisions to withdraw artificial nutrition and hydration (ANH) rarely involve patient consent. The study, conducted by researchers from Brussels University and the University of Ghent, examined the circumstances of 6927 deaths in the country (about 12% of deaths in the year 2007).
Researchers found that in 81% of cases where artificial nutrition and hydration had been removed there had been no patient consultation. The reasons give for this were that the patient was demented (40%), unconscious (35%) or that the decision ‘was in the best interest of the patient’(8%). In lieu of patient consent the patient’s family was consulted and/or other physicians.
The researchers argue that patient consent is vital, and that a process of advanced consultation is necessary:
“The significance of these decisions calls for a model of decision making involving ideally the consent of the patient or at least of the family in the context of advance care planning, which can still be improved in Belgium.”
This will aid doctors in cautious and informed ethical decision making, the authors said.
Egging people on to commit suicide can be regarded as free speech which is protected by the First Amendment of the US Constitution, the Minnesota Supreme Court has ruled. It has sent the case of former nurse William Melchert-Dinkel back to a district court judge to determine whether he should be tried for assisting suicide rather than just encouraging it.
The facts of the bizarre case are clear enough. In 2011 Melchert-Dinkel, a married father of two, was arrested after the suicides of 32-year-old Mark Drybrough in England, and 18-year-old Nadia Kajouji in Ontario. He had posed as a young suicidal female nurse in suicide chatrooms, given his victims detailed instructions, and encouraged them to enter suicide pacts with him. They were supposed to hang themselves while he watched on webcam. Apparently he had encouraged dozens of people to kill themselves. He told police that he did it for “the thrill of the chase”. He was convicted of assisted suicide and sentenced to one year in jail, suspended pending appeal.
The final outcome of the case will also affect another prosecution in Minnesota. Four members of the Final Exit Network have been charged with encouraging a woman who suffered from chronic pain to commit suicide. That case may fail if all charges against Melchert-Dinkel are dropped.
The court’s decision is controversial. One state senator commented: “It really pushes back Minnesota’s tradition of protecting vulnerable people and people with medical conditions. The ruling allows a person to convince another to end it all by suicide, and that starts to make our society a little too harsh.”
“Well, he was a nasty person. I don't think there is any redeeming social value of having someone on the Net looking for people who are suicidal and trying to encourage them to kill themselves by even explaining different methods… the Minnesota Supreme Court said, you know, we don't like this guy, obviously, but his speech doesn't come to the level of assisting. It does come to the level of advising and encouraging, but advice - you can advise and encourage. That's protected speech.”
In most cases Australian regulations are fairly permissive and there seems to be little likelihood of imposing major restrictions. However, there are many areas which are puzzling and controversial even for people involved in the IVF industry.
Some topics on which the NHMRC invites comment are:
age limits on sperm donors
limits on the number of children sired by sperm donors
compensating egg and sperm donors
should donors be able to exclude certain clients such as lesbians, single mothers or ethic groups from using their sperm?
posthumous sperm donation
confidentiality about sperm and egg donation
the practice of creating hybrid embryos to test the quality of human sperm
storage limits for frozen embryos
“adoption” of frozen embryos
consent issues when gametes are obtained from children or people with impaired intellectual capacity.
Three top US universities have combined with Oxford University Press (OUP) to start the world’s first journal devoted to advances at the intersection between law and bioethics. The Journal of Law and the Biosciences, an open access journal co-edited by academics from Duke, Harvard and Stanford Universities, aims to foster an interdisciplinary conversation between lawyers, bio-scientists, philosophers and other experts on controversial topics in bio-law. It will focus on cutting edge issues such as neurolaw and ethics, human enhancement, mass genetic testing and predictive analytics.
“We are seeing major developments in genomics in neuroscience, in patent law, and in health care. We want to be at the forefront of this, and we think that a peer-reviewed journal led by the leading research institutions working in this area in the US is the way to go”.
The first issue of the journal contains articles dealing with international research ethics frameworks, informed consent in genetic testing, human enhancement, and the commercialisation of blood banks.