Seventy years ago this week, scientists Francis Crick and James Watson burst into a pub in Cambridge, UK, announcing to friends and colleagues they had “discovered the secret of life”.
They formally published their discovery, the shape of the DNA molecule and the way it codes information, just a few months later. The study of DNA has continued in giant strides since that day. Just last week, the life of a UK toddler, Teddi Shaw, was saved using understanding and manipulation of her genetic code.
The ability to read the DNA code, known as sequencing, has become cheaper and more widely available, leading to challenging questions for scientists and ethicists.
On the one hand, cheaper sequencing will allow newborns to be screened for genetic conditions, such as MLD, the one that would have killed Teddi. MLD is considered a rare disease, affecting perhaps one in 160,000 children.
But as Gareth Baynam, from the Rare Care Centre at Perth Children’s Hospital, Australia, says rare diseases are anything but.
“With around 7,000 different rare diseases, they are collectively very common, affecting more people than have diabetes,” he says.
“The significant decrease in the cost of DNA screening and profiling … has the potential to revolutionise the way we diagnose and treat rare and undiagnosed genetic conditions and diseases.”
Danya Vears from the Murdoch Children’s Research Institute and University of Melbourne says: “Incorporating genomic sequencing into newborn screening would mean more babies who are going to develop severe conditions could be detected earlier, leading to earlier interventions and healthier babies.”
But she adds a note of caution. “Storing and re-analysing genomic newborn screening data …also poses ethical issues and questions.”
Such questions include discrimination. Jackie Leach Scully from UNSW Sydney says that an abnormality on a genetic test may too easily be understood as something that must be selected against.
“Differences in bodies and behaviour, no matter how minor, may be automatically assumed to be unwanted,” she warns.
According to Yann Joly, research director of the Centre of Genomics and Policy at McGill University, Canada, genetic discrimination has occurred in the past and must be guarded against.
“In the late 1970s mandatory genetic screening programmes for sickle cell disease (a group of inherited blood disorders) in the US adversely impacted members of the Black population who were not able to gain employment or medical insurance following a positive test result.”
He says an international Genetic Discrimination Observatory was established in 2018 to identify and prevent genetic discrimination worldwide.
Careful protection of genetic data is key to preventing such discrimination, says Lucky Runtuwene, from the National Institue of Infectious Diseases, Japan. “The handling of genome sequences, especially the whole genome, must be regulated as strictly as other sensitive information.”
And ironically, it is the handling of this sensitive information that will most propel, or hold back further understanding of our DNA.
“The fragmented and bloated state of an individual’s health information in the US stands in stark contrast to its ability to create technical and life-saving advances,” says Beth Tarini a pediatrician at the Children’s National Hospital, USA. The USA’s failure to have centralised health records, “hinders the ability to realise much of the value of the genomic technology that the nation has created”. Without good health records, the link between DNA data and health conditions cannot be made.
Researchers agree that whether in newborn screening, understanding of rare diseases, detective work on infectious diseases or understanding what makes humans tick, cheaper DNA sequencing will only be of benefit to humanity. But if public confidence in this life-saving technology is to be maintained, DNA data privacy is key.
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Read the articles discussed in this feature:
Why life is about to get better for patients with rare diseases By Gareth Baynam, Rare Care Centre, Perth Children’s Hospital ‘Rare’ diseases are anything but. And with cheaper DNA sequencing, patients’ lives will be transformed.
The pros and cons of storing babies’ DNA By Danya F. Vears and Christopher Gyngell, Murdoch Children’s Research Institute, The Royal Children’s Hospital, and University of Melbourne Compiling and storing the DNA of newborns could be a massive boon for public health. But the ethical questions are just as big.
The ethical minefield of screening for disabilities By Jackie Leach Scully, UNSW Sydney With prenatal genetic screening now routine, it’s relevant to ask whether prospective parents or scientists understand enough about the results.
Genetic discrimination and the ghost of the future past By Yann Joly, McGill University Unless people are brought into conversations about genetic discrimination dystopian scenarios may come to pass.
DNA data offers benefits many of us will never realise By Beth Tarini, The George Washington University Collecting DNA data is not much help without the key to understanding what it all means. And that key is centralised health records.
This could stop pandemics in their tracks Lucky Ronald Runtuwene, National Institute of Infectious Diseases Japan Cheap, portable sequencers in poor countries could be key to identifying and halting emerging diseases before they have a chance to become a pandemic.
The race to improve DNA sequencing Giulio Formenti, Rockefeller University Cost, availability and sample preservation are the main concerns but progress is rapid. DNA could ensure strawberry fields forever Leong Chee Onn, International Medical University, Malaysia Advances in the field are revolutionary but require safeguards to curb misuse.
