Week 6: Genetic Testing and Privacy: The Ethics and Policy

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Week 6: Learning goals and objectives

In Week 6 you will be learning about the…

  • The varieties of different types and broad spectrum of uses embedded in the descriptor, “genetic test;”
  • The pros and cons of genetic testing;
  • How direct-to-consumer (DTC) genetic testing is transforming the way(s) in which personal information may be used in the future, in the wake of new FDA regulations;
  • Wave of ethical, psychological and philosophical dilemmas centered on the potential impact of being able to glimpse one’s medical destiny;
  • Challenges of protecting the privacy of research subjects and their extended families;
  • The core responsibilities of a biobank research system;
  • Techniques aimed at “curing” genetic disease and “genetic engineering” in humans;
  • Reasons why the ethical management of genomic data is so difficult.

Your objectives are to…

  • Justify the claim that the diagnostic utility of DNA testing can change someone’s behavior or cause them to make a different decision?  If not, why not?
  • Consider: The balance between being informed about your genetic make-up and becoming obsessed by it can be a difficult one to strike. The burden that places on us is only likely to increase as scientists find the genetic code to an ever expanding range of diseases and conditions.  Agree/Disagree?
  • Discuss the pros and cons of genetic testing, in general;
  • Construct an argument in support, or against, the statement that the story of Henrietta Lacks and her family makes a good case for universal healthcare?
  • Support, or refute, the observation that “protecting an individual’s privacy or making data anonymous is no longer a sustainable position.”
  • Consider the arguments for and against Article 24 of the UNESCO’s Universal Declaration on the Human Genome and Human Rights which indicates that “germ-line interventions” could be considered as practices which are “contrary to human dignity.”

The last decade has witnessed a breathtaking acceleration in genome science and its many interdisciplinary fields of scientific inquiry, including, public health, engineering, computer science, and mathematics, all working to map the interactions between thousands of genes and their cellular and extracellular environments. The social sciences and humanities are also integral components of the genomics revolution as ethicists and legislators create policies and laws that will guide the integration of genomics into responsible scientific practice and health care. 

Today, genomics has yielded the richest source of biological data we have ever known.  Attention must be paid to the way in which genomic knowledge and expertise is expressed, heard and acted upon. There is concern that new genomic technologies might be used in ethically and socially unacceptable ways, with the public left powerless to resist their advance.  On the other hand, advances in genomics offer the potential to transform health care.  Such tensions at the intersection of core human values and technology, if left unaddressed, impede research and reduce the ability of the scientific enterprise to serve society.

Consider the ethical and personal dilemmas posed by the rise of genetic technology and testing. A young woman learns she has a gene that will almost certainly kill her in middle age. How does she deal with that knowledge? Another has to negotiate complicated family dynamics to decide about preventive mastectomy, after learning that she has a gene that raises her chance of breast cancer. What do genes tell us about ourselves, and about our potential children? How much is clear, how much is uncertain, and how do we know the difference?

Many people are afraid to get genetic testing, one reason for which is the fear that the results may make it harder for them to get or keep a job, and/or health insurance. Commercial DNA testing companies may offer you slivers of information about yourself, ranging from the frivolous: Are you better disposed to be a long-distance runner or a sprinter? to the serious: Are you at risk of developing Alzheimer’s disease?

Do you want this information? If you had it, how would/might it be useful to you?  Read on…

Direct-to-Consumer (DTC) Genetic Testing

Collectively, the direct-to-consumer (DTC) genetic testing industry has been dubbed by professional geneticists and health care providers as an example of “recreational genomics.” The information they gather is ostensibly the best available; Often, it is information generated by research paid for by tax dollars. But does that mean that companies should be allowed to provide that information directly to consumers, with little or no medical personnel acting as a required filter?

Certain information, like learning that you have a higher-than-average chance of developing cancer, can be highly disturbing. Yet some consumer advocates argue that it is patronizing for doctors, scientists and regulators to try to shield individuals from the information that comes from their own DNA, no matter how incomplete it may be. So far, these companies have not been terribly successful, so consumers may be voting with their pocketbooks on this one. But as the price of performing such tests plummets, and the companies lower their fees, it may become a more pressing question for a larger number of potential customers and their families (See: Sizing up your Genes).

Just as there are questions about how easily individuals should be able to access the information in their own DNA, the acceleration of genetic research has raised questions about the responsibility of researchers to inform individuals about how their DNA may be used in research, and how the information divulged by the test may be used. There is an ongoing study by Robert Green at Harvard looking at direct-to-consumer genetic testing. His preliminary data shows that most consumers handle medical genomic information appropriately, sharing it with health care providers and often using it to improve their health behaviors.

Some forms of commercial genetic testing promise something like this kind of future-telling. But you need to think long and hard about peeking into your own genes to see what they hold in store for your health. It may not be so easy to cope with the bad news that could result. And it is likely that other people could know your genetic future even if you do not consent to tell them. And, there is always the chance that having more information might lead to completely “unexpected” (and “emotionally wrenching”) outcomes. (See: With genetic testing I gave my parents the gift of divorce)

Some forms of commercial genetic testing promise something like this kind of future-telling. But you need to think long and hard about peeking into your own genes to see what they hold in store for your health. It may not be so easy to cope with the bad news that could result. And it is likely that other people could know your genetic future even if you do not consent to tell them.

Let’s say you send a vial of your saliva to one of the many companies advertising direct-to-consumer genetic testing and the results showed you had a huge risk of a fatal disease. Is that information you would like to have? Would you want to get this news in a letter sent by overnight mail? Wouldn’t you prefer to have someone available to counsel you about what negative findings mean and what to do about them?

There are people who say they don’t need help dealing with whatever the genetic tests reveal and studies suggest that individuals at high risk for a particular disease, like breast cancer, can get bad news without going all to pieces emotionally.  At most, however, such studies suggest that people in high risk groups who know they are likely to get a genetic disease can handle negative health information. But it doesn’t tell us much about how the average person will cope in such a situation. (See: What do you want to know?) Take the Sanger Survey to add your personal views to the UK survey international data base.

As a case in point, consider a family history of Huntington’s Disease and the Woody Gutherie story.

Remember that genetic testing is still in its infancy. Some genes when present mean 100% certainty that you will get a disease, but some raise your risk only 5%. And test predictions are based on studies of small, mainly white, American populations. Testing quality depends on the lab and that is all over the place right now. So much genetic testing is not exceedingly reliable and not always trustworthy in terms of what it means for you.

Remember genetic testing is about risk and probabilities–and the future is shaped by your genes and your lifestyle, facts that genetic counselors and medical professionals can help make clear. It is cheaper for DTC companies not to have to offer counseling. But cheaper is not necessarily better if the test indicates a high risk for Alzheimer’s, Huntington’s, diabetes, cancer, depression or blindness for you or your children.

Underscoring the issues of “medical paternalism” and the “democratization” of our health information – and the persistent push for some kind of regulation of the DTC genetic testing industry – in November 2013, the Food and Drug Administration (FDA) issued a “cease and desist” letter to the DTC testing company, “23and me” prompted by questions about the accuracy and application of the results by the company’s health analysis service. In 2008, NBC interviewed the founders of the company, 23AndMe. Seven years later (2015) those issues are now front and center. (See: Uncertain Future)

While some commercial companies promise to tell you what is, for example, the optimal diet for you to eat or whether your kid will be a star athlete, the reality is that genomic science is not yet capable of providing consistent and reliable information about the association of specific genes with particular behaviors, traits, and disease. This seems surprising given that the field of genetics/genomics, in general, is moving rapidly toward making it technically possible to both repair and replace defective DNA once it is identified. (See: Mitochrondia Replacement Therapy and Crispr)

Genetic testing is a potentially-useful new tool for helping us stay healthy. But doctors, counselors and even legislators need to get involved so that genetic knowledge can be properly understood and kept private. People want to participate in research, but they also want to make sure that their data is secure and that they know how their information is being used. This issue will be paramount when whole genome sequencing can be done in utero on unborn and newborn children.


Twelve years after the Human Genome Project officially ended, the potential for personalized medicine lies not in a single genome, but in many. Before physicians can discern features of disease that are specific to individuals, researchers need to catalogue  the enormous range of genomic and phenotypic variation in human populations. Biospecimens that are accompanied by data on medical history, behavior and health outcomes are crucial to this task. (See:  Genetic Data Goldmine)

If built well and responsibly managed, these biobanks (like the U.K’s Genomics England) will facilitate research on health and disease for decades to come. This includes getting large numbers of people to submit biospecimens and personal health information. For this to happen, it will be necessary to address a number of key issues and bottlenecks which could cripple that effort. For example,

— The lack of public trust in the methods of delivery of genomic risk information;

— Public misunderstanding of the processes by which health care providers and researchers seek permission and disclose appropriate information to competent patients (“Informed Consent”);

– The absence of clear policy designed to deal with genetic patenting rights and Intellectual property of genetic material, e.g., “Who owns your DNA?

— The need for policies of oversight and governance of “Participatory Medicine,” a movement in which networked patients shift from being mere passengers to responsible drivers of their health, and in which providers encourage and value them as full partners.

— Distrust of mechanisms for protecting personal information (“Privacy”)

(See: Squealing on DNA)

For example, in 2013, a team of American and Israeli scientists showed they could reconstruct the identity of people from anonymous genetic samples using readily available databases on the Internet. Genetic hackers who get a sample of your DNA could use public databases to determine whose genetic sample they have.

Genetic Information Nondiscrimination Act (GINA)

Rep. Louise Slaughter, was instrumental in the passage of GINA

Rep. Louise Slaughter, was instrumental in the passage of GINA

With regard to the issue of privacy, it is important to note that in 2009, the Genetic Information Nondiscrimination Act (GINA) was voted into law. In general, GINA prohibits health insurance companies from using genetic information to deny benefits or raise premiums for individual policies. (It was already illegal to exclude individuals from a group plan because of their genetic profile.) (See: Rep. Louise Slaughter reflects on 12 year old GINA)

Employers who use genetic information to make decisions about hiring, firing or compensation can be fined as much as $300,000 for each violation. The law has yet to be critically tested, so concerns about application may still be warranted.

Given that uncertainty, many patients who might make more informed health care decisions if they learned whether they had inherited an elevated risk of diseases like breast or colon cancer refuse to do so because of potentially dire economic consequences that might occur if that information were to be used against them. For that reason, others spend their own money for DNA tests so as to keep the results private.

Major employer and health insurance groups who opposed the legislation say specific examples of genetic discrimination are few and far between. And even consumer advocacy groups could list only a few, but it is impossible to say whether that’s because it is not happening or because it’s just hard to prove because it is well disguised.

In any case, anti-discrimination groups like the Genetic Alliance argue that unless GINA is strictly enforced (See current details here), the much-anticipated benefits of personalized medicine are going to be lost or diluted for many Americans who are too afraid to take advantage of genetic testing.  And, as illustrated in the following three cases, there may be reason to be concerned.

Informed Consent: Three Cases

Case 1:  As discussed in Week 3 and featured above, in 1951 a black tobacco farmer and mother of five, Henrietta Lacks, died of cervical cancer and her cells were taken without consent and subsequently grown in culture and used over the years to help develop some of the world’s most important vaccines and cancer medications. Her family didn’t learn of the existence of the cells until 20 years after Lacks’s death, when scientists began using her children in research without their knowledge. Later their medical records were released to the press and published without consent. (See: The Henrietta Lacks story (week 3))

Case 2:  At the bottom of the Grand Canyon lives an isolated tribe of Native Americans whose 600 or so members have, for the last several decades, developed diabetes in much greater numbers than the general United States population. They are called the Havasupai and the story of their involvement with genetic research serves as a cautionary tale for both scientists and prospective research subjects.

In the early 1990s, a geneticist from Arizona State University, Dr. Therese Markow, visited the Havasupai at the suggestion of an anthropologist colleague who had worked with the tribe for many years. They normally did not give blood, which they viewed as sacred, for reasons other than medical necessity. But for the chance to find a cure to the disease devastating their families, they readily agreed to give DNA samples for Dr. Markow’s research, which she described as a “medical/genetics project.”

Dr. Markow carried out diabetes research with the several hundred DNA samples she collected from the Havasupai. She looked for a variant that had been found in another Native American tribe where diabetes occurred at high levels, but she didn’t find it. Then, without explicitly informing the tribe members, she analyzed their DNA for associations with schizophrenia, which she had been told was also prevalent in the tribe.

There was some reason to think that the tribe’s isolation had led to inbreeding, which might have made it easier to isolate a gene associated with a disease, because the other variation among individuals would have been diminished. Dr. Markow also studied the tribes’ origins, lending weight to previous research that described Native American ancestors as having migrated from Asia about 20 million years ago over the frozen Bering Sea.

That account flies in the face of the Havasupai tribe’s own origin story, which traces them to their Grand Canyon home. Aside from their spiritual beliefs, some tribe members feared that anything that suggested that they were not indigenous to the land on which they lived could be used to take it away from them. It was not until a decade later that tribal members discovered the extent of the research that had been done with their blood samples and that was still ongoing at the university.

They filed lawsuits, which were ultimately resolved in the settlement of April 2010. Even in the early 1990s, researchers and institutions that receive federal funds were required to obtain “informed consent” from subjects, ensuring that they understood the risks and benefits before participating. But such protections were intended primarily for research that carried physical risks, like experimental drug trials or surgery.

When it comes to mining DNA, the rules — and the risks — are murkier. Dr. Markow herself maintained that she had indeed received the proper consent from the tribe and its members, even after the chairman of the Arizona State Board of Regents stated that he wanted to “remedy the wrong that was done.” It was the vagueness of that description that, in April 2010, prompted the university’s board of regents to pay the tribe nearly $750,000 to settle a lawsuit over the unauthorized use of the DNA. (See: Informed Consent and Medical Research)

The cultural gap between the Havasupai Indians and the Arizona State University researchers is often cited as at the root of what happened there. But more recent examples suggest that there may be a significant gap in what scientists see as their responsibility — or, in some cases, simply their ability — to explain their work to research subjects, and what participants understand about what is being done with their tissues. The same is true of the Henrietta Lacks story. As a result, scientists are debating how to better apply the principle of “informed consent” to large-scale genetic research. At stake, they say, is the success of future research, which relies on voluntary participation by increasingly large numbers of human subjects. For many other reasons, enhancing “genomic literacy” among health care providers and their patients (AKA “the general public”) is critically important!

Case 3:  Parents in Texas sued the state health agency when they discovered that blood taken from their newborns, to be screened for genetic disorders, had been made available to scientists for a range of disease research and taken without parental consent. Some samples, they later learned, had also been provided to federal law enforcement officials for research aimed at improving the interpretation of forensic DNA evidence. Several parents said that they probably would have agreed to allow their children’s DNA to be used for the other purposes. But they were incensed at not having been asked first. To settle the lawsuit, the state destroyed the samples, a decision similar to the ongoing newborn screening controversy in Minnesota. (See: Newborn screening controversy in Minnesota (week 3))

In all three cases described above, the real damage, many bioethicists say, is that failing to inform  and get permission for the use of tissue from potential research participants distrust of science, in general, and scientists, in particular that will ultimately slow down such research. “Researchers cannot do their research unless people are willing to trust them,” says Hank Greely, a law professor and director of the Center for Law and the Biosciences at Stanford University.

Some advocates for patients have criticized what they call a paternalism among some scientists who may believe that they are working to benefit humanity and prefer not to slow down, or spend grant money, to explain their work. But part of the problem may also be that communicating with the public is not something scientists are trained to do. New York Times, Amy Harmon, agrees. (See: Educating the public)

Current Hot Issues in Genetic Testing and Policy

Over the past decade, significant advances in genetic testing and technologies have altered the clinical management of individuals. Advances in genetic testing are also accompanied by a string of new challenges related to the ethical, legal, and social issues (ELSI) for our society.

Contrary to the assumptions of the general public based on what “genomic breakthroughs” appear in the popular press on an almost daily basis, the innovations and idea generated by the constantly evolving field of genomics is still in the embryonic phase, at least with regard to the ability to develop a clinical application. Here are a few of the “hot” Issues in 2014:

  • Intellectual Property and Ownership
  • Insurance reimbursement for genomic services
  • Regulation of genetic testing
  • Regulatory and non-regulatory approaches for dealing with DTC genetic testing
  • Regulation of pharmacogenomics and genomics–based therapeutics
  • Protection against genetic discrimination and stigmatization
  • Uses of genomics-based testing in non-medical settings (e.g., Forensics)
  • Electronic Medical Records (EMRs)
  • Information security, privacy and informed consent
  • Tissue collection, storage and biobanking; and
  • IFs (Incidental Findings) and IRRs (individual Research Results)

In the past few years, the debate about return of individual research results (IRRs) and incidental findings (IFs) has reached new prominence. Various peer-reviewed journal articles have declared the debate to be “arguably the most pressing issue in genetics today.” Controversy will continue as research participants are offered individual information. Limits will be set to preserve the capacity to perform research and to protect participants from faulty information, and not all studies and biobanks will undertake individual return policy development and options. It will take years of research and work to tailor returns designed to simultaneously serve participants’ needs and research realities.

An American College of Medical Genetics and Genomics (ACMG) 2013 Report has set (policy) guidelines in place:

  • When a patient’s full set of genes is identified for any medical reason, laboratories should also screen for additional genetic problems, even those [IFs] that are unrelated to the risk justifying genetic testing in the first place. Patients would then be notified [IRRs] of any additional genetic conditions found.
  • The report further acknowledges ethical issues may arise around patient autonomy and the ‘right not to know’ but concludes that the doctor’s “duty to prevent harm by warning patients and their families about certain incidental findings” justifies the recommendation.

Dr. Brian Drucker, Director of the Knight Cancer Center at Oregon Health and Science University lists five general criteria for offering (communicating) an unsolicited medical opinion to a patient:

  1. High probability of a serious, impending risk to health;
  2. High risk of non-treatment;
  3. A reasonable person would want to know about such a risk to their health;
  4. Physician is reasonably certain of the diagnosis; and
  5. Treatment is available.

Criteria may become tricky where #s 1 and 4 are positive, but there is no effective treatment available (e.g., Huntington’s Disease); and even more problematic when the certainty of risk is less clear.

As primary care providers grasp the new implications of genetic and genomic advances, an understanding of the ethical, legal, and social issues (ELSI) for our society. Over the past decade, significant advances in genetic testing and technologies have altered the clinical management of individuals. Advances in genetic testing are also accompanied by a string of new challenges. (See: Genomic medicine: evolving science, evolving ethics)

A huge issue which remains is that there are not enough genetic counselors world-wide to handle all the relevant information being generated by genomic science. We may need to rethink some of the training of medical and public health professionals to handle this “fire hose” deluge of information about, for example, the relationship between genes and psychiatric disorders. (See: Is there a gene for depression, alcoholism or schizophrenia?)

Resources and Discussion

Questions for Discussion

  • Should genetic online tests be federally regulated?Discuss some issues that mitigate for and against your position.
  • Would you spit in a tube in order to participate in a company’s biobanking project?  Why/Why not?  What specific issues (for or against) are most relevant to your decision?
  • Is it necessary to ask someone who has donated DNA for research on heart disease if that DNA can be used for Alzheimer’s or addiction research?
  • Should samples taken from AIDS patients be made available in a public database, so that other federally financed researchers can use them for additional studies?
  • What if a researcher used them to look for a gene for homosexuality? Do the original donors of the DNA have a say?
  • Should there be policies in place to regulate this kind of research activity?  Explain your answer.
  • What is your interpretation of this statement a physician was overheard to say about informed consent: “It’s hard to get true consent when you have to start with ‘What is a gene?’”
  • Would you want to know you may have a higher than average risk of Alzlheimer’s Disease? Explain your decision?
  • Is it always ethical to treat a genetic disease once it has been identified by genetic testing?
  • Would you want to know information about your genome and risk of future diseases? Complete the Wellcome Trust Sanger Institute Survey to share your perspectives (see Resources section above for link).