Rapid advances in DNA-sequencing technology mean that human genomes could be sequenced for as little as $1,000 in the next few years. Unfortunately, the current biomedical research establishment is entirely unprepared for such a scenario.
COLD SPRING HARBOR – Since the human genome was first sequenced in 2000, genome science has accelerated at a remarkable rate. Rapid advances in DNA-sequencing technology mean that affordable decoding of the human genome is not far away. In fact, human genomes could be sequenced for as little as $1,000 in the next few years. Unfortunately, the current biomedical research establishment is entirely unprepared for such a scenario.
Researchers often believe that their mission is to uncover new biology and genetics, and that someone else will translate them to the clinical arena. Accordingly, many geneticists have worked on “big-science” genomics, including genome-wide association studies focused on common genetic variation in the human species.
But it is widely known that certain mutations can run in families, increasing dramatically the risks of certain diseases – for example, breast cancer, sickle-cell anemia, and cystic fibrosis. Unfortunately, many human molecular geneticists have abdicated any responsibility for trying to decrease the overall burden of such diseases.
While this trend has many causes – most of which have been debated extensively – one very important factor is rarely discussed. Scientific research – and biomedical research in particular – largely resembles a race. Human geneticists, like big-game hunters, specialize in finding disease genes – the “prize.” Once they succeed, they usually do not continue to develop their findings; instead, they move on to their next target.
Today, scientists are rewarded for how many papers they publish, and in which journals. In the United States, several major genome-sequencing centers exist primarily to conduct research – including the Centers for Mendelian Genomics, which seek to find the genetic basis of “simple” Mendelian disorders (diseases caused by a single mutation in the structure of DNA). Many other countries are undertaking similar programs.
But the discoveries and published papers rarely benefit the people who enable this research by donating their blood and other tissue samples. As Michael Nielsen discusses in his recent book Reinventing Discovery, the “publish or perish” mentality that dominates the field means that many substandard or incomplete papers are published, while those people who are supposed to benefit from the research are often little more than an afterthought.
Access every new PS commentary, our entire On Point suite of subscriber-exclusive content – including Longer Reads, Insider Interviews, Big Picture/Big Question, and Say More – and the full PS archive.
Subscribe Now
Indeed, research volunteers rarely receive their genomic data, which betrays the trust that participants place in researchers to use their findings not only to increase the stock of scientific knowledge, but also to deliver actionable results.
The personal genomics and biotechnology company 23andMe has created a useful interface for returning results, which could easily be built upon to deliver complete genome data to participants – as long as the sample collection and sequencing are performed to a sufficiently high clinical standard. The company’s model laudably calls for research participants to help in the analysis of their own genomes, thereby relieving researchers of the burden of returning all results at once.
With expanding knowledge, analyzing genomes becomes easier. The hope is that, as technology develops, more researchers will recognize the importance of returning results – especially those that could have a significant medical impact – to participants.
Because there is no regulation requiring that initial sequencing of human genomes be performed to clinical standards, most sequencing does not meet laboratory-test criteria. Indeed, results are often not reproducible – badly conceived, poorly conducted, or outright fraudulent. Criteria must therefore be established to ensure that sequencing is performed in an appropriate clinical environment, with rigorous standards in place, including for sample collection.
Researchers today face the wrong incentives, which results in the failure to translate findings into meaningful action for research participants. Only by improving clinical standards and returning results to participants can human genome sequencing truly serve its purpose – to help humanity.
To have unlimited access to our content including in-depth commentaries, book reviews, exclusive interviews, PS OnPoint and PS The Big Picture, please subscribe
From a long list of criminal indictments to unfavorable voter demographics, there is plenty standing between presumptive GOP nominee Donald Trump and a second term in the White House. But a Trump victory in the November election remains a distinct possibility – and a cause for serious economic concern.
Contrary to what former US President Donald Trump would have the American public believe, no president enjoys absolute immunity from criminal prosecution. To suggest otherwise is to reject a bedrock principle of American democracy: the president is not a monarch.
explains why the US Supreme Court must reject the former president's claim to immunity from prosecution.
When comparing Ukraine’s situation in 2024 to Europe’s in 1941, Russia’s defeat seems entirely possible. But it will require the West, and the US in particular, to put aside domestic political squabbles and muster the political will to provide Ukraine with consistent and robust military and financial assistance.
compare Russia's full-scale invasion to World War II and see reason to hope – as long as aid keeps flowing.
COLD SPRING HARBOR – Since the human genome was first sequenced in 2000, genome science has accelerated at a remarkable rate. Rapid advances in DNA-sequencing technology mean that affordable decoding of the human genome is not far away. In fact, human genomes could be sequenced for as little as $1,000 in the next few years. Unfortunately, the current biomedical research establishment is entirely unprepared for such a scenario.
Researchers often believe that their mission is to uncover new biology and genetics, and that someone else will translate them to the clinical arena. Accordingly, many geneticists have worked on “big-science” genomics, including genome-wide association studies focused on common genetic variation in the human species.
But it is widely known that certain mutations can run in families, increasing dramatically the risks of certain diseases – for example, breast cancer, sickle-cell anemia, and cystic fibrosis. Unfortunately, many human molecular geneticists have abdicated any responsibility for trying to decrease the overall burden of such diseases.
While this trend has many causes – most of which have been debated extensively – one very important factor is rarely discussed. Scientific research – and biomedical research in particular – largely resembles a race. Human geneticists, like big-game hunters, specialize in finding disease genes – the “prize.” Once they succeed, they usually do not continue to develop their findings; instead, they move on to their next target.
Today, scientists are rewarded for how many papers they publish, and in which journals. In the United States, several major genome-sequencing centers exist primarily to conduct research – including the Centers for Mendelian Genomics, which seek to find the genetic basis of “simple” Mendelian disorders (diseases caused by a single mutation in the structure of DNA). Many other countries are undertaking similar programs.
But the discoveries and published papers rarely benefit the people who enable this research by donating their blood and other tissue samples. As Michael Nielsen discusses in his recent book Reinventing Discovery, the “publish or perish” mentality that dominates the field means that many substandard or incomplete papers are published, while those people who are supposed to benefit from the research are often little more than an afterthought.
Subscribe to PS Digital
Access every new PS commentary, our entire On Point suite of subscriber-exclusive content – including Longer Reads, Insider Interviews, Big Picture/Big Question, and Say More – and the full PS archive.
Subscribe Now
Indeed, research volunteers rarely receive their genomic data, which betrays the trust that participants place in researchers to use their findings not only to increase the stock of scientific knowledge, but also to deliver actionable results.
The personal genomics and biotechnology company 23andMe has created a useful interface for returning results, which could easily be built upon to deliver complete genome data to participants – as long as the sample collection and sequencing are performed to a sufficiently high clinical standard. The company’s model laudably calls for research participants to help in the analysis of their own genomes, thereby relieving researchers of the burden of returning all results at once.
With expanding knowledge, analyzing genomes becomes easier. The hope is that, as technology develops, more researchers will recognize the importance of returning results – especially those that could have a significant medical impact – to participants.
Because there is no regulation requiring that initial sequencing of human genomes be performed to clinical standards, most sequencing does not meet laboratory-test criteria. Indeed, results are often not reproducible – badly conceived, poorly conducted, or outright fraudulent. Criteria must therefore be established to ensure that sequencing is performed in an appropriate clinical environment, with rigorous standards in place, including for sample collection.
Researchers today face the wrong incentives, which results in the failure to translate findings into meaningful action for research participants. Only by improving clinical standards and returning results to participants can human genome sequencing truly serve its purpose – to help humanity.