Magazine March 23, 2020, Issue

Dime-Store Genomics 

(WestEnd61/Getty Images)
Genetic testing will soon be cheap, routine, and ubiquitous

Genetics has transformed itself in the 21st century. In the 1990s it was an abstruse and esoteric field, as it had been since its rediscovery in 1900. The public awareness of the topic was often filtered through science fiction, such as the film Gattaca.

The Human Genome Project changed that. In the early years of the 21st century the science came into its own, with genomics taking the study of single genes and applying it to the whole genome (i.e., an individual’s complete sequence of genetic material). Scientists Craig Venter and Francis Collins became celebrities, often seen on the evening news and in glossy magazines, while the new field of genomics in the 2000s was the purview of scientific publications, and perhaps panels on Charlie Rose discussing its possibilities.

Those possibilities are now realities, even if they are not what we originally expected. We haven’t cured cancer by decoding the human genome. But whereas the first genome cost over $1 billion to compile, in 2020 we can purchase a genome for less than $1,000. More than 30 million Americans have availed themselves of consumer DNA kits that provide genetic information. Instead of being an abstract concern of science labs, genetics has become part of the marketplace of goods and services, providing entertainment and useful information. Rather than possibilities, we are now in the domain of concrete realities.

Whereas sequencing the whole genome, all 3 billion base pairs (the vast majority of which are invariant), costs $1,000, the companies selling mass-market DNA kits focus on around 1 million positions that can vary from person to person. This is considerably cheaper, allowing retail costs to drop below $100. But this was a process that began over ten years ago. The initial kits sold in the early 2010s were much less detailed and more expensive. While phones and computers can pack in more and more features, the human genome is finite. Today, with improved technology, the cost has gone down, to the point where one can imagine a price close to zero by 2030.

The 2010s was the decade when “consumer genomics” became a term that reflected something in reality. The 2020s have the potential to be the decade when genomics becomes so ordinary and ubiquitous as to be unworthy of mention or note. We will be entering the “total genomic information” world.

What does this mean? If you grew up at the turn of the century, you were familiar with some ways that genetics might be useful. There were forensic tests for crime scenes. There were carrier tests for couples whose future children might be at risk for an inherited condition. There were tests to identify paternity. Finally, there were cases where you might come down with an illness and a targeted genetic test could be ordered by your doctor.

A world of ubiquitous genomes means that all this will go away. A high-quality whole genome gives you all the information you might want to ask for. All you have to do is ask the question. Consumer genetics and high-quality medical genetic testing are already providing many important “incidental findings.” When you buy a DNA consumer kit to explore your genealogy, you may discover a half-brother you never realized you had, or find out that your father is not the man who contributed the genetic material to make you you.

Family secrets long hidden are all going to be exposed if they have a genetic angle. Here is a true story from a friend. There had been rumors in his small town that he had a half-brother due to an affair by his father. He purchased a DNA kit to see if he could find a match with 25 percent of his DNA, the proportion for half-siblings. Immediately such a match turned up. But it wasn’t a stranger; it was someone he knew. His stepfather’s sister was shown to be his aunt (aunts and uncles share 25 percent of their DNA with nieces and nephews). Looking for the product of an affair by his father, my friend came to find out that his mother had had an affair with the man who became his stepfather, and that that man was his biological father.

Genealogical genomics is extremely powerful, and its net extends far beyond close kin. With 10 percent of the American population now present in consumer databases, most individuals can be identified by matches with relatives. This was the case with the Golden State Killer, who was identified through matches between his sample and distant relatives. These matches were then used to narrow down the possible suspects. For various technical reasons, DNA was not retrievable from many 20th-century crime scenes, but we now have the technology to analyze degraded and low-quality samples.

The example in the previous paragraph shows the power of network effects and scale. DNA kits now allow for robust and massive genealogical datasets that can reconstruct nearly the entire human pedigree. That is, by taking genetic sequences from a large group of people, you can reconstruct their ancestors in terms of their genetics; it’s just a matter of computing it. But the assembling of information from massive numbers of people who are genotyped and sequenced also means that the science of discovering diseases gets better and better. Bigger numbers mean more power, and more power in the aggregate means more information returned to individuals. The more useful information that is returned to individuals, the greater the consumer demand will be. And so a virtuous cycle establishes itself.

The drive for sequencing will also be driven by public-health concerns. Today newborns in the United States are tested for a few significant childhood diseases and conditions automatically. In some cases the diseases never present themselves if the child’s diet is immediately altered. But these sorts of tests have clear limitations, and many hospitals now make recourse to rapid whole-genome sequencing for newborns who are not “flourishing.” These infants cannot tell a doctor how they are feeling, making them difficult to diagnose. The new genetic technology, which searches through the whole sequence for problem segments, has allowed for much better diagnosis of idiopathic conditions in newborns.

The path forward, then, is clear: Within a decade it is likely that all newborns will be sequenced. It will be cheap and quick, and it will need to be done only once. It also means a whole generation will grow up without ever having to do a genetic test. Their whole sequence will be somewhere in the cloud, at the ready. It will be like having a genetic Social Security card.

The development of genomics is somewhat like what has happened in the banking business. Before there were Social Security cards and credit agencies, obtaining loans involved more effort and relied on intuitive methods. J. P. Morgan famously stated that “the first thing is character.” Today credit is based on a variety of measurements of your history and your demographics. The intuitive has been made precise; the opaque, transparent.

Genetics will bring transparency; that much is clear. Future generations won’t fortuitously “discover” long-lost relatives because they are likely to be in the database already. Indiscretions that might lead to obfuscated paternity will be impossible to hide. If a child has a genetic mutation that causes illness later in life, the parents will have the choice to know beforehand. And then they can choose to tell their child, or not.

When you begin dating someone, it is very likely that some exchange of genetic information will be the norm. After all, you may find out early on that there are mutations that both of you carry that might lead to disease in your children. Or you may discover that various immune incompatibilities mean the probability of miscarriage is high. Questions and decisions that now emerge organically over time will soon be present from the initial stage in the digital age.

The genetic revolution of the past few decades has been enabled by advances in science and technology and by the laws of capitalism. Supply and demand have worked to bring costs down, and consumer genomics is being transformed from a niche novelty into the sort of thing that drives conversations at Thanksgiving dinner. It can aid in solving crimes, foster good health, and allow one to understand one’s genealogy.

But technology can also impact society, reshaping values and priorities. Capitalism is an engine of cultural “creative destruction.” Secrets and hypocrisies that maintained the good health of a family might not be viable in the age of transparency. The sweet and innocent courtship that defines the early stages of a relationship may immediately be subject to the cold glare of genetic permutations.

Genetics is a powerful informative tool. But what we do with that tool is up to us.

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