image title

The future of DNA is unfolding now

April 5, 2019

Advances in DNA technology bring up fascinating questions about what role it will play in our society, from medicine to food

An arrest in the decades-old Golden State Killer case.

A Chinese scientist creating the first gene-edited twin baby girls.

DNA is clearly changing our reality. 

In recognition of National DNA Day on April 25, scientists at Arizona State University took time to reflect on some big questions: What brought us to this point, where are we going from here — and just because we can, should we?

As is the case with most dense subjects, the best place to start is usually the beginning.

Where it all began

The average science novice might point to the Human Genome Project that had roots in the 1980s as the origin of modern DNA science. But it goes back further than that, to the discovery of the double helical structure in the 1950s and the development of the sequencing process in the 1970s that unlocked the genetic information contained in DNA.

“Those were crucial technological breakthroughs that enabled the whole field to unfold,” said Robert Cook-Deegan, professor in the School for the Future of Innovation in Society. 

He witnessed firsthand as genomics took on its current form in the late 1980s, when molecular biologist James Watson — the very man who in 1953 had co-authored the paper proposing the double helix structure of the DNA molecule — asked him to lend his science and health policy expertise to the Human Genome Project.

At the time, computing technology began advancing at a rapid clip, allowing scientists to study the whole genome at once instead of one gene at a time — for the first time, they had a 30,000-foot view of the building blocks of life.

The term genomics was coined with the launch of the eponymous peer-reviewed journal in 1987 and helped to distinguish the science from genetics, the study of inheritance that only considered one gene at a time.

This newfound perspective of the curious interactions and fascinating entanglements of the chromosomes and proteins that make us who we are ushered in an era of more precise diagnostics. By analyzing a person’s genome and comparing it to relatives, scientists could pinpoint differences and similarities in their genetic makeup that might make them more prone to certain diseases or conditions.Melissa Wilson

"We’re all mountains, but we have some differences."

— School of Life Sciences Assistant Professor Melissa Wilson

School of Life Sciences Assistant Professor Melissa Wilson studies the evolution of sex chromosomes and how they could be related to disease risk. In an unprecedented upcoming paper, she and a team of researchers theorize that women’s propensity toward overactive immune systems helps them both surveil and fight off cancer better than men.

She explains the utility of the human genome reference thusly:

“It’s like if I gave you a puzzle of Camelback Mountain and I said, ‘This is the human genome, it's Camelback Mountain.’ But really, some of us look like the Appalachians, and some of us look like the Superstitions, and some of us look like Four Peaks. We’re all mountains, but we have some differences. So we use that puzzle of Camelback Mountain as our reference to see where they are the same and where they are different.”

Then, in the mid-2000s, new forms of faster DNA sequencing allowed for the detection of variants in individuals and populations. 

Robert Cook-Deegan

“That’s one thing nobody saw coming,” Cook-Deegan said. The ability to identify genetic differences among populations has vast implications for tracing ancestry, including the study of ancient DNA. It gave researchers insight into regional ancestry, migration patterns and more.

Nowadays, while scientists have already harnessed the potential of the naturally occurring genome editing system known as CRISPR-Cas9 to genetically modify babies in the womb, Cook-Deegan cautions we still have much more to learn.

“We’re at the toddler stage,” he said. “There’s just so much data coming out and we know so little about so much. Understanding the genome is not just about what genes you have, but understanding why and how and when they’re turned on and turned off. ... We still don’t understand that regulatory switch-work at all. We’re just at the very beginning of being able to understand that. That’s going to go on for about another century.”

The genome guides precision medicine

From the 18th through the 20th centuries, a physician's dominant tool was the microscope. They would look at cells or tissues under a microscope and then say, “This patient has disease X, Y or Z,” based on the way the cells appeared. It was very good, and took health care a long way. 

Then the Human Genome Project launched. The world's largest collaborative biological project, it was an international scientific research project with the goal of determining the sequence of human DNA and identifying and mapping all of the genes of the human genome from a physical and a functional standpoint. It was completed in 2003. 

“What we learned in the 21st century, or even at the very tail end of the 20th century, is that we can get even more precise about what a patient has by looking at the molecules,” said Joshua LaBaer, executive director of ASU’s Biodesign Institute and a professor in the School of Molecular Sciences. LaBaerCenter director, Biodesign Virginia G. Piper Center for Personalized Diagnostics; interim center director, ASU-Banner Neurodegenerative Disease Research Center; faculty member, Biodesign Virginia G. Piper Center for Personalized Diagnostics. is one of the nation’s foremost investigators in the rapidly expanding field of personalized diagnostics.

“Precision medicine is basically a way of fine-tuning the way we treat our patients,” LaBaer said. “With personalized medicine, doctors like myself always felt we personalized treatment. We don’t treat a population; we treat an individual.”

When LaBaer went to medical school back in the 20th century, one would look at certain cells and tissues in the breast under the microscope and say “infiltrating ductal carcinoma of the breast.” That was a pathologist’s terminology for breast cancer. Now doctors know that one disease under a microscope is like seven or eight different molecular diseases if you look more deeply. There’s luminal A type, luminal B type, HER2 type, there’s triple negative type, and so on. And those different types behave differently with different chemotherapies. They also respond to specific therapies that are not available for the others. And that’s just breast cancer. The same kinds of things are true for other types of cancers as well as other diseases. 

“In the 21st century, we’re looking more at these molecules and we’re understanding much more about how they contribute to disease, what they tell us about the prognosis of the patient, and what opportunities of therapy we can bring to bear,” LaBaer said.

The Human Genome Project, for the first time, outlined a complete human parts list. Looking at the human genome basically told us all the different genes that are there. That was the first step, and it was a big one. But that project looked at a few people’s genomes, and people vary widely. 

The All of Us Research Program was launched by the U.S. government in 2018. It seeks to extend precision medicine to all diseases by building a national research cohort of 1 million or more U.S. participants. Anyone over the age of 18 living in the United States can join. 

We all have a likelihood of getting different diseases. But when we do, our outcomes can differ from person to person with the same disease. Much of it is a product of our different genomes. 

“How do we understand the variation?” LaBaer said. “What is the variation between us, and how does understanding that variation help predict risks of disease and/or responses to disease when they occur? By cataloging all that information, we will learn a lot about those sorts of factors. That’s what (All of Us) does for us."

There are limits to what genome info can do for disease risk. LaBaer’s favorite metaphor is the genome is a recipe, but people given the same recipe might make dishes that taste a little bit different. Joshua LaBaer

"The genome is the starting point, but it’s not the answer to everything.”

— Joshua LaBaer, professor and executive director of ASU’s Biodesign Institute.

The genome is the blueprint for how to make a person. People are a little different from the genome, because wear and tear happen to them. Things break. Sometimes people break even when they’ve always appeared to be fine, like a vegan athlete who develops diabetes in his late 40s. 

“The genome doesn’t necessarily tell us what’s going to happen to a person,” LaBaer said. “It gives us the mathematical possibility of things that might happen to that person. … The genome can tell us likelihoods of our being able to metabolize certain drugs in certain ways. … That’s called pharmacogenomics, and that’s very important. The genome is the starting point, but it’s not the answer to everything.”

There are a lot of things about DNA information people need to know, LaBaer said. Although your entire human genome can be sequenced, fairly little is known about how to interpret that. 

“If anyone tells you, ‘Oh, we’ll sequence your genome and that will fix everything,’ that’s probably not true,” he said. “It’s almost certainly not true. Certainly some of those elements are helpful. There are known genetic disorders you can detect.”

Whether you’re going to get heart disease or a specific type of cancer, mostly what’s now known can’t predict that. And, contrary to what you see on TV, genome sequencing can’t tell you whether your heritage is Albanian or Latvian. What do consumers need to watch out for? 

“You need to be careful about what kind of promises are made about what you’re going to learn from this,” LaBaer said. “A lot of these companies initially promised all this medical value for people, and the FDA forced them to back away from that claim. Now most of them are marketing themselves as talking about your heritage. Even there, I think a lot of what’s promised is a little bit oversold at this point. When people say you’re 30 percent this and 15 percent that, I don’t know what that means. I don’t know how well that’s understood at this point. … DNA is only useful if the clinical information attached to it is also accurate. Oftentimes it isn’t.”

LaBaer cautions it’s worth looking at the fine print for privacy issues. Some of the companies sequencing genomes are selling that information to other companies for research purposes. Theoretically it’s not identified as yours. They’ll say it’s from a Caucasian female in her 30s, or something along those lines. A lot of their business models aren’t based on the fees you paid, but fees from selling the sequence to someone else. And, as is discussed in other sections of this series, there are no legal barriers from law enforcement going in to any of these companies and seeing what they have. 

Finding solutions with gene therapies

When the gene editing tool CRISPR burst upon the scene in 2012, scientists immediately saw its potential to cure genetic diseases. Samira Kiani has built her career around her passion for applying CRISPR technology to synthetic biology. An assistant professor in the School of Biological and Health Systems Engineering, she has established her research program to combine CRISPR technology with synthetic biology to develop safer and controllable gene therapies.

Samira Kiani

Is that potential realistic? How viable are solutions? 

There are three major areas CRISPR can potentially make an impact, according to Kiani. The first is gene therapy: Patients with formal genetic diseases like metabolic diseases or immune disorders have some sort of faulty genes. 

“We can use CRISPR to disrupt those faulty genes or correct those faulty genes,” Kiani said. “This time CRISPR would allow us to pinpoint the type of genes that already exist in human DNA and just modify those, correct those or disrupt the faulty genes.”

Another potential arena for CRISPR would lie in correcting susceptibility genes that put people at risk of diseases like diabetes, cancer and atherosclerosis. A delivery device would put CRISPR in the patient’s body. The tool would go to a certain organ and change the genes. 

“CRISPR would allow us at some point — let’s say five or 10 years from now — to develop a form of gene therapy using CRISPR and go and modulate those genes so that they are not really conferring susceptibility anymore to those diseases,” Kiani said.

The third application for human health Kiani cites is correcting a faulty gene at the embryonic level. For example, if a couple had genes that would immediately lead to a fetal disease, they could do in vitro fertilization and the genes could be corrected at the level of the embryo. Then the corrected embryo could be implanted.

CRISPR also is being used to diagnose certain genetic diseases or viruses that can infect cells such as HPV, HIV or Ebola.

Clinical applications are feasible within five to 10 years, according to Kiani. The technology is moving rapidly — but there’s a catch.

Science fiction writer William Gibson famously said, “The future is here. It’s just not widely distributed yet.” Travel from a big city to a rural town, or from an industrialized nation to a developing one, and unequal distribution of advanced anything is obvious. 

“With technologies like this, you will face all the issues with access and equality of access,” Kiani said. “How do we make it affordable for every doctor’s office to have it? If we are speaking with regard to accessibility to patients at every doctor’s office, I would say a longer term — maybe 15 or 20 years. As any new technology is developed — internet technology or iPhone — every time these new technologies develop, rich (people) have better access to it. So I would say once this technology is rapidly developed, it’s either accessible to people with more money or governments and insurance companies need to come on board so they actually provide this accessibility to patients.”

Spinal muscular atrophy is a debilitating, muscle-wasting disease caused by death of nerve cells in the spine. The FDA approved the sale of a new drug for the treatment of this disease. The drug tricks the spinal neurons into using another gene to produce protein, allowing the patient to survive. Here’s the catch: The drug costs $750,000 in the first year followed by $375,000 a year after that — for life. 

Gene therapies have the potential to alleviate that problem of cost. They require the creation of a drug specific for each patient. It has to be designed, customized, administered and monitored by several expert personnel. Currently, none of that comes cheap. 

But there is a light at the end of that tunnel, Kiani said.

“The claim with CRISPR is because it’s easier to repurpose, the costs might be lower,” she said.

We can — but should we?

Ethical questions concerning biotechnology were already a part of the science and health policy conversation by the time the field of human genetics took off, thanks in part to biological weapons research that lasted until the Biological Weapons Convention in 1972 and the advent of agricultural biotechnology (which remains controversial to this day).

In relation to DNA science, School of Life Sciences Associate Professor Ben Hurlbut said ethical concerns arose out of the combination of the hopes that were attached to what knowledge the human genome could give us — such as the capacity to treat disease — and the uses it might be put to that could be contrary to the public good.

Hurlbut and colleagues are working on creating a new kind of structure for governance of the field — a global observatory for gene editing, which he wrote about in a March 2018 article for Nature.

“In the earliest days of the development of genetics and the technology associated with it, there was a tendency in the scientific community to ask those large ethical questions,” he said. “But over the years, there’s been a kind of resistance to that and a silencing of discussions that look far ahead.”

Cook-Deegan can attest to the former. A few years into working on the Human Genome Project, he authored “The Gene Wars: Science, Politics, and the Human Genome,” a personal account of the genesis and early stages of the project that also addressed anxieties regarding far-reaching medical and social implications. Later, he would go on to found Duke University’s Center for Genome Ethics, Law and Policy.

What is interesting about the field of human genetics, he noted, is that it started to take off at the same time that historians around the world were beginning to re-examine the history of eugenics and so-called "racial hygiene" that led to sterilization and interracial marriage bans. So as the field advanced, so too did unease about such ills resurfacing. 

At the same time, most understood the potential health benefits of genomics.

“So from the beginning, there were ethical discussions and a parallel effort to do something about policy, to think about the legal issues that were going to need to be addressed,” Cook-Deegan said.

Some of the earliest ethical concerns with biotechnology were related to biosafety, military and industrial control of life and genetic engineering. Lately, as Hurlbut mentioned, things have become even more complicated. 

Andrew Maynard

“Our ability to do stuff far exceeds our ability to do it ethically.”

— Andrew Maynard, professor in the School for the Future of Innovation in Society

In 2013, in response to a molecular diagnostic company that attempted to do so, the Supreme Court ruled that isolated human genes could not be patented. While proponents of the argument claimed patents would encourage investment in biotechnology and promote innovation in genetic research, opponents claimed patenting isolated genes would hamper further disease research and limit options for patients seeking genetic testing. 

And there’s also reason to question whether we rely too much on what DNA tells us about disease risk factors to determine treatments and predict health outcomes.

“I'm not an MD,” Wilson said, “but for example, aspirin is advised to give to everyone to help prevent stroke. Turns out, it doesn't really work in women. And this has been known for decades. But we just give it to them anyway.

“So we have personalized medicine based on populations that are not representative of the people we're working on. If we really want to have personalized medicine, we need to actually have our data sets be representative of everyone. And they're not right now, unfortunately.”

Andrew Maynard, professor in the School for the Future of Innovation in Society, studies emerging tech and responsible innovation. In his new book, “Films from the Future,” he grapples with a number of issues around the ethics of how we work with DNA and what it means to innovate responsibly.

In the years to come, he believes there is a growing urgency for not just scientists but everyone DNA technology has the potential to affect to learn how to be socially responsible with it.

“Our ability to do stuff far exceeds our ability to do it ethically,” he said. “So there’s a huge obligation for us to think critically about what we’re doing and have an open conversation about it.”

Gene modification on our tables

As for that controversial agricultural biotechnology, genetically modified organisms have been around since the early 1970s. Definitions vary, but consensus hovers around an organism that has been altered in a way that would not occur in nature.

A bacteria was the first organism to have its DNA altered, followed by a mouse and a plant. The first organism engineered for commercial ends was the Flavr Savr tomato, which hit supermarket shelves in 1994. The FDA declared it as safe as a natural tomato. The goal of all tomato growers is to be able to handle them as soon as possible and for them to have a longer shelf life. The maker’s intent was to slow down ripening. Flavr Savrs did have a longer shelf life, but they still had to be picked and handled like any vine-ripened tomato. The company struggled with profits, mainly because they didn’t know enough about the farming end of the business, and were eventually acquired by Monsanto.

Flash-forward another decade and GloFish hit the market. They’re still around, for people who think tropical fish are too drab. In 2015, AquAdvantage Atlantic salmon hit Canadian markets. Modified to grow to market size in 16 to 18 months instead of three years, it was initially blocked from being sold in the U.S. In early March, however, the FDA lifted the import ban on genetically engineered salmon and salmon eggs. 

Oya Yazgan is a molecular biologist in the College of Integrative Sciences and Arts, where she teaches a course in food and human health. How foods are produced and the consequences of consuming various types of foods is her passion. 

There's one big question hovering over GMO foods: Are they safe? The short answer — no one really knows. Research has been done and used as a reference for saying that GMOs are safe, but it’s neither serious nor reliable science, Yazgan said. 

"We need to take a very careful look at these before we play with people’s health."

— Oya Yazgan, molecular biologist in the College of Integrative Sciences and Arts

“The studies they refer to are poorly designed and statistical analyses are not strong, and they are making conclusions that are not scientifically valid,” she said. “We have some preliminary evidence that needs stronger scientific research that indicates there are damages that are being caused by these GMOs. They are seeing intestinal damage in mice and pigs. The general bigger problem I see is that these studies are not designed well. They are very short-term, when you think about any possible effects. They are truncating these studies. If you don’t see the effects, then they are concluding that these are safe, which is, in my opinion and many other people’s opinions, irresponsible.”

Oya Yazgan

Studies concluding GMOs are safe often have been conducted by industry-sponsored researchers. Independent researchers have an opposite view. 

“A lot of publications and news reports and everything that I look at basically has ties to industry,” Yazgan said. “This is a huge industry — everyone is aware of that — and the feeling is that this is being pushed before we have definitive answers about their safety. That is my concern and my frustration about this as well.”

GMO foods are clearly labeled as such in the European Union. In the U.S., food is either organic or it’s not. 

“There is that push because industry has a stronger hold on scientific research and the publications and what’s being made available to the public,” Yazgan said. “In Europe there are more regulations controlling the release of these GMOs and any other substance as well. There is more public support in Europe. There is more business support in the U.S. That’s the biggest difference.”

What’s the best option for concerned consumers? Right now that would be organic, because GMOs aren’t labeled. Big agriculture is trying to wiggle its way out of regulations, Yazgan said. 

“The latest technique that is used to make modifications in the genes, they are little different from the previous ones and they do not leave a mark on the DNA of the organisms they are changing,” she said. “The FDA does not consider that genetically engineered, even though they are. They are trying to avoid the regulations.”

Intestinal problems, like irritable bowel syndrome, are on the rise, but not definitively linked to GMOs.

“We need to take a very careful look at these before we play with people’s health,” Yazgan said.

Written by Emma Greguska and Scott Seckel/ASU Now

More stories in this series

 
image title

DNA enters legal maze with potential to solve — and create — privacy problems

April 5, 2019

Policy and law surrounding DNA creates push-pull between scientists and lawyers

In August 1970, a woman named Patricia Ann Parker filed a paternity suit against Elvis Presley in Los Angeles Superior Court. The 21-year-old waitress claimed she’d had a relationship with the King of Rock and Roll during his engagement in Las Vegas earlier that year, and she wanted $1,000 a month in support for the child she named Jason Peter Presley.

Parker’s only proof that she and Presley were ever together was a black-and-white snapshot of the two of them taken in the corridor near his dressing room. Presley gladly posed with anyone who wanted a picture, and he was appalled his generosity was being used against him in a court of law. 

The judge decided the quickest way to arrive at the truth was to order blood tests to establish the baby’s paternity. The baby obviously needed to be tested, too, and in those days the blood was drawn from a small cut made in the child’s heel. Presley and Parker were present for the procedure, and as the doctor made his incision, the child shrieked. Presley reportedly clenched his jaw and cursed underneath his breath at Parker, who he felt had unnecessarily put her baby through great pain to undergo this fishing expedition.

The blood tests proved that the child was not Presley’s.

Woman and man backstage

Patricia Ann Parker and Elvis Presley backstage in Las Vegas, 1970. Photo courtesy of Bud Glass Productions

The procedure used to draw that baby's blood is identical to the one used for screening babies for genetic conditions in the first 24 to 48 hours of life. That process is the neonatal heel-prick test (commonly referred to as the Guthrie test) and has been a staple in labor wards and birthing clinics for decades. The drawing of blood from a newborn can be used to prove — or disprove — paternity, or for screening for a host of genetic conditions. Now with DNA testing, it’s much quicker and far more accurate.

Like that 1970 blood test, DNA has provided a lot of answers. But it has also created new questions with the potential to open a Pandora’s box of legal problems that we haven’t even imagined yet.

The long lagging arm of the law

DNA currently is basking in widespread popularity. It has helped solved murders, rapes and other crimes. It has exonerated the wrongfully accused and freed the wrongfully imprisoned. It can establish paternity and reunite long-lost family members. It’s also being mined for data collection for future medical research and breakthroughs.

DNA's accuracy is hard to dispute, and it has become so affordable that millions are signing up for websites like Ancestry and 23andMe with the companies' promises to help track their pasts and see what mysteries lay ahead.

But for every positive action or step forward, there is an equal and opposite reaction.

The law traditionally lags behind technological breakthroughs, so it seems inevitable that the courts will have to engage with this at some point.

Gary Marchant

Sandra Day O’Connor College of Law and Regents' Professor Gary Marchant says our laws have not kept up with advances in science and technology. Photo by Charlie Leight/ASU Now

“Law moves much slower than science and technology; (it's) known as ‘The Pacing Problem,’” said Gary Marchant, Regents' Professor of law and director of Arizona State University's Center for Law, Science and Innovation. “So with many questions in genetics and other emerging technologies, legislators and regulators have to establish rules. When someone claims injury or invasion of privacy, courts and juries are forced to adjudicate new claims using old laws, which often fit poorly.”

Even more troubling is that DNA could potentially leach into a lot of different areas of the law, including privacy, discrimination, research, consumer rights, health and law enforcement.

About the only federal law on the books that has any teeth is the Genetic Information Nondiscrimination Act of 2008, also referred to as GINA. The law prevents discrimination from health insurers and employers.

“It was one of the very first and preemptive laws looking toward the future to try and reassure people that we could go forward with genetic medicine,” Marchant said. “But it only protects certain things — health insurance, yes, but not everything.”

Marchant said that could be problematic for individuals who choose to get their DNA sequencing done, because they would have to disclose by law what they know to insurers for life, disability or long-term care insurance.

Before the federal law was passed, many states had passed laws against genetic discrimination. The degree of protection from these laws varies widely among the different states.

“We all leave our DNA behind every day on drinking glasses and many other objects,” Marchant said. “In some states, it would be illegal to take your drinking glass and test your DNA for any trait. In other states it would only be legal to test for non-health-related traits, and in other states it would be legal to test for anything.”

Marchant said that since we cannot avoid leaving our DNA behind every place we go and on every object we touch, it raises tough questions that we as a society must eventually answer.

“Do you care that virtually anyone could test your DNA for private information?” Marchant said. “Would you want to know the secrets in your DNA, and how might they use that information to help or hurt you?”

Better to ask for permission than forgiveness

While there’s not much in the way of legal precedent regarding DNA, our DNA has been tested and stored by hospitals, health providers and other entities for almost 50 years — with and without our knowledge — according to ASU Professor Diana M. Bowman.

 1

Diana Bowman

Bowman said Guthrie tests have been utilized by the health community since the 1960s. The blood that is captured on those cards is screened for a number of genetic diseases, including cystic fibrosis and phenylketonuria, and is subsequently stored.

“The filter paper — which constitutes the card — contains the DNA of a newborn, which is then screened for a range of genetic conditions, thus allowing early intervention — when required. From a public health perspective, Guthrie cards are a very powerful tool that have allowed thousands and thousands of children across the world to have a better quality of life,” said Bowman, a professor in the Sandra Day O'Connor College of Law and the School for the Future of Innovation in Society. “The public health benefits of the program cannot be questioned, especially as scientific advances have allowed us to test for additional genetic diseases. I think there are very few people who would argue otherwise.”

In addition to diagnosing diseases, these cards have a variety of uses, said Bowman. They include identifying remains of a body (especially in the case of mass tragedies), establishing paternity and medical research.

BowmanBowman is also the associate dean and professor in the Consortium for Science, Policy and Outcomes and a senior sustainability scholar with the Julie Ann Wrigley Global Institute of Sustainability. said the problem is many people who were screened as children as part of the Guthrie card program have no idea that they went through the heel-prick process, and that in many instances — if not the majority of cases — the hospitals didn’t have the parents' consent prior to the test.

The bigger legal issue today, Bowman said, doesn’t have to do with consent to the screening process itself, but what was done with the information on the cards in regard to potential secondary uses, such as research. Bowman also suggests that there may be questions relating to the ways in which the cards have been stored. How might they be used in the future? And who has ownership of them?

Bowman said in the United States, there have been cases where families have, collectively, taken the state to court over accessing and taking possession of their cards; in Texas, this resulted in the destruction of 5 million cards as part of the settlement agreement. In Australia, widely publicized events including a criminal investigation into an alleged case of incest in Western Australia, led to the destruction of all cards older than two years in that state’s archive.

“The loss of that very rich kind of DNA could be seen as a real blow to medical science and to the legitimacy of the screening programs themselves,” Bowman said. “We need to get more sophisticated in how we look at consent, and secondary use, and walk parents through this powerful public health intervention.”

Using DNA to bust criminals, find family

In the new era of DNA testing, people can pay a fee, send a swab of their saliva to a site such as Ancestry or 23 and Me and get a breakdown of their genomes. But the millions who have already taken these tests probably don’t realize they’re putting their genetic privacy at risk.

That was certainly the case with 72-year-old Joseph James DeAngelo, a suspect arrested in the “Golden State Killer” case after Sacramento police investigators used an open-source genetic database, GEDmatch, to explore his family tree.

Though most private genetics companies won’t grant access to their databases, they do work with law enforcement on disclosing information about customers' DNA. And sites like GEDmatch include free tools that allow people to enter their DNA profiles or genealogical data to find familial matches with other users.

Marchant said he’s all for it when it comes to potentially busting violent criminals.

“If we are finding these horrible criminals who are doing these horrible things … that we would not have found otherwise, I don’t see that as a bad thing,” Marchant said. “Frankly, if I had a murderer or rapist in my family, I would want to help catch them before they commit another horrific crime. I wouldn’t have a problem with it myself, but some people do: In which case, don’t put your data on a site.”

Jamie Winterton

Jamie Winterton (center), director of strategy for ASU's Global Security Initiative, speaks during the "Scoping the Problem — What is Cybersecurity?" panel at the first ASU Congressional Cybersecurity Conference on the Polytechnic campus on Aug. 23, 2017. Photo by Charlie Leight/ASU Now

Jamie Winterton, director of strategy for ASU’s Global Security Initiative, says there are other ramifications to DNA discovery.

“People are finding new relatives they didn’t know they had or looking at someone they thought was a relative and realizing, ‘Oh, based on this data, we’re not genetically related at all,’” Winterton said. “So there are some awkward conversations going on between people.”

Winterton, who is adopted, said she has contemplated taking a DNA test and finding her biological parents but has resisted so far.

“I don’t know how I would be received,” Winteron said. “I’m also a privacy advocate, and my genetic parents might want to keep their privacy. I have no idea what they want. I have been going back and forth on this for five years.”

Nothing is secure with hackers

DNA has provided myriad discoveries about the past, but it's also in use to push forward future discoveries. The All of Us Research Program is one such effort. Organized by the National Institutes of Health, its mission is to gather data from 1 million or more people living in the United States to accelerate research and improve health. According to the program website, researchers hope that by taking into account individual differences in lifestyle, environment and biology, they can uncover paths toward delivering precision medicine through DNA collection.

Researchers believe data collection in large volumes could lead to breakthroughs in early Alzheimer’s detection, breast cancer, sickle cell anemia, heart issues, rare blood disorders and almost any genetic hereditary disease.

While some are inspired to participate in a national database, others are less inclined to put their DNA information on the market, so to speak, without explicit control of who has access. For these individuals, blockchain technologies may be an option.

ASU Research Professor Dragan Boscovic thinks that’s a good idea.

Dragan Boscovic

“It’s an indelible copyright and unbreakable reference that no one can dispute,” said Boscovic, a computer science research professor and director of ASU’s Blockchain Research Lab. “Blockchain can help you control who has access to that information and for what purpose. You would be the owner rather than the companies who are now testing or hospitals that are keeping our bio samples.”

Boscovic suggests choosing a blockchain that supports privacy and enables participants to control the information, in case they choose to allow research and testing. The blockchain protocol should also control access to genealogical history and shield personal information from law enforcement unless the user gives specific permission.   

The other benefit of a blockchain is that it’s extremely hard to hack. But not impossible, according to ASU’s Adam Doupé.

Adam Doupe

Adam Doupé

“Nothing is secure,” said Doupé, an assistant professor in the School of Computing, Informatics, and Decision Systems Engineering and associate director of the Center for Cybersecurity and Digital Forensics. “Hackers are very clever because they prey on human fears and weaknesses. There is definitely an extortion scenario or two there.”

Doupé said hackers often target individuals with a high net worth to extort them for their silence. If a hacker obtained someone’s DNA that showed they are prone to early-onset Alzheimer’s or another genetic disease, they might be willing to pay to keep that information private.  

“When your DNA is out there, like data, it’s sort of like Pandora’s box,” Doupé said. “Once it’s out there, you can’t ever put it back in the box.”

Potential chilling effect on global security

Winterton has spent her career looking at national and global security. She is trained to think about worst-case scenarios and says she shudders when thinking about the possibilities of DNA falling into the wrong hands.

“There are millions and millions of genomes out there and I don’t know how they’re being protected, but I hope they’re doing a better job than Equifax did with our credit histories,” Winterton said. “When you collect large groups of data, you have to consider: What could a foreign adversary do with that information? I think that gets left out of the conversation.”

One answer is simple to Winterton: It could be used to exploit an American with a national security clearance.

In April 2015, the database for the U.S. Office of Personnel Management was breached, Winterton said. This database contained sensitive information about Americans who applied for security clearances. The Equifax hack occurred in 2017, detailing economic information about millions of Americans. Add a DNA breach, and that could spell additional trouble, Winterton said.

“The genetic piece is another way to manipulate someone,” Winterton said. “It offers a fuller picture, this whole other aspect of a person that an adversary could control and target an individual with classified information.”

Winterson said people are often willing to give up their private information for convenience and are often motivated on a risk-reward basis. She said consumers need to start considering what privacy means to them, while tech companies need to think about potential outcomes of their products and how to protect privacy.

“It would be much more effective if Silicon Valley and people from national security talk about this problem now, rather than deal with the risks down the road after deployment,” Winterton said. “That never, ever works.”

More stories in this series

Reporter , ASU Now

480-727-5176