A Life Everlasting (19 page)

We all got gifts that day. Callum got his dinosaur and his sticky bun; the scientists got to put a real name to RES360; and Ross and I got to share in the wonder yet again of what Thomas's gift was doing—not just for these researchers, who had waited so long for someone like him to come along, but for all the patients in the future whose vision, and maybe even lives, would be saved.

March 29—the date Thomas died—is a tough one for me. I want to recognize it because it's a day that changed our lives profoundly. I don't exactly want to celebrate it, but ignoring it and doing nothing doesn't feel right, either. Fellow bereaved mom Anna Whiston-Donaldson, the author of
Rare Bird: A Memoir of Loss and Love
, calls the anniversary of the death of her son the “Crapiversary,” which sounds about right.

But Sunday, March 29, 2015, had at least this to recommend it: Michael Vitez's article about our visit ran in the
Philadelphia Inquirer
and on its companion website, Philly.com, that day.

Five years after Thomas's death, something good was happening on this day. Quickly, the story of Thomas Ethan Gray spun around the globe; the story eventually received more than one million clicks. I had contacted the local media only because I thought it might inspire people in Philadelphia to appreciate what was happening in their hometown, and also to perhaps register to donate. I was surprised and delighted that the story of my son resonated with such a wide audience all over the world.

Dr. Ganguly said that there is no normal circumstance that would make the tissue of a healthy child available. In other words, she considered the death of a child somehow abnormal, and I disagree. Although we might not always talk about it or hear about it, children and babies die every day of trauma and diseases. According to the CDC, more than nine thousand children under the age of fourteen died in the United States in 2013. We don't know how many of them donated healthy retinas for research, but we do know that Dr. Ganguly didn't receive any that year despite being on the waiting list for years. My hunch is that the number of donations was zero, because parents are not aware that they need to proactively ask to donate.

This was about to change.

A
t every step of my journey to track down my son's donations to research, I willingly and enthusiastically shared my information, and the researchers I met seemed open to meeting me and to sharing what they were doing. But it seemed like I kept bumping up against confusion around confidentiality rules, and I wanted to know why.

The history of medical research is peopled with thousands of well-intentioned researchers looking to improve the health and well-being of mankind, from Dr. William Halsted's discovery of the antiseptic method, which revolutionized modern surgery by making it largely survivable, to Jonas Salk's discovery of the polio vaccine, and beyond. But in a world of people doing good work, sometimes the bad seeds get the most attention and tarnish the reputation of the field. For example, some of the worst cases include the inhumane experiments conducted by Josef Mengele at Auschwitz; the human guinea pigs who suffered the dire effects of untreated syphilis in the Tuskegee experiments; and the unwitting contribution made by Henrietta Lacks that was famously documented in Rebecca Skloot's
The Immortal Life the Henrietta Lacks
, the book I was reading when I was waiting to see the psychic Kizzy in Scotland.

But those are the exceptions. The vast majority of research being conducted today is, as Jeff Thomas of NDRI says, “for the betterment of mankind.”

And yet the sometimes overly restrictive rules—or simply the wary attitudes—continue to get in the way.

Unless consent is obtained, when organs, eyes, tissues, and blood are donated for research, all identifying descriptors are removed, and the donations are assigned a number. But they can be re-identified if needed; that's an FDA requirement. If the tissue ever needs to be recalled because of an infectious disease scare, say, the donations in question must be tracked as a matter of public safety.

Traditional research practices include keeping all participants' identifying information confidential: researchers receive de-identified donations. Living donors or authorized parties sign consent forms stating they understand that they will not receive results of any scientific study made using this donation.

The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research
, published by the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research in 1979, established the guidelines for research on humans, which were in turn adopted by the National Institutes of Health. And it was based on these regulations that
The Federal Policy for the Protection of Human Subjects
—also known as “the Common Rule”—was published in 1991. The Common Rule stipulated requirements for assuring compliance by research institutions, for obtaining and documenting informed consent, and for the creation of institutional review boards, or IRBs.

An IRB must be established by any institution “sanctioned
by the Federal Government to conduct research” from its own faculty as well as nonaffiliated nonscientists. Further, “any study involving research on human beings must go through the IRB.”

The intention was that IRBs were to protect research participants from fraud and abuse. However, IRBs also have their downsides. As Steven J. Breckler, executive director for science of the American Psychological Association, has said, “Increasingly, we hear horror stories about IRBs that are imposing incredible burdens on researchers, creating bureaucratic nightmares and otherwise hindering the progress of research.” Rather than furthering research, IRBs can lean toward simply protecting academic institutions from lawsuits—CYA (cover your ass) run amok.

In fact, Carl E. Schneider, professor of law at the University of Michigan, recommended in his 2015 book,
The Censor's Hand: The Mismanagement of Human-Subject Research
, that IRBs be completely eliminated because they tend to delay or distort research that could otherwise be helping advance scientific discovery for the betterment of patients.

In response to a history of complaints about inappropriately shared medical records, the Health Insurance Portability and Accountability Act of 1996—known as HIPAA—was passed, leading to the U.S. Department of Health and Human Services issuing their “Standards for Privacy of Individually Identifiable Health Information.” These standards ushered in a new era in which patients began to see their medical records as their own, and not the property of their doctor. Before HIPAA, a doctor might give a copy of a patient's medical record to the patient's employer or spouse, or even to a fellow physician. A doctor was even allowed to call a patient's voice mail at work and leave a recording including sensitive test results and medical information
. HIPAA stopped all that, instead putting discretion in the hands of the patients.

So HIPAA now allows patients to request their medical records at any time, and to request a list of people who have accessed their electronic medical records. Patients also have the right to submit a correction if there is a disagreement about a doctor's statement. Health-care providers are not permitted to share medical information with an employer or a spouse anymore without the patient's written consent. HIPAA also allows the patient to determine which phone number a health-care provider is allowed to use, and whether they have permission to leave a message about the patient's medical treatment.

However, when it comes to research, HIPAA also facilitates researchers having access to data than can be useful in their work, unlimited by privacy concerns. With all the genetic work going on, scientists need huge amounts of such data, but HIPAA also requires researchers to de-identify samples that they work with so that participants' identities are unknown. Once a biospecimen is de-identified, it is no longer protected by HIPAA. This advances medical science, for sure, but some people may be uncomfortable with the thought that their tissue, or their loved one's tissue, is floating around out there anonymously.

But it gets more complicated still, since scientists have proved since the rules were first put in place in the early 1990s that it's now possible to re-identify tissue with DNA and other tests.

To my eye, at least, the issues boil down to one thing: informed consent. Many people are happy to participate, just as I was, but they want to know about it, and they want to give permission.

As of 2016, the Department of Health and Human Services is considering a change to the Common Rule that would require explicit permission from patients for scientists to use
leftover tissue from surgeries or biopsies or blood donations. Some researchers worry that this will create a bureaucratic nightmare, while others, like Duke University's Misha Angrist, think that the days of anonymous tissue samples are long past their expiration date.

In 2007, Angrist became the fourth participant in the Personal Genome Project at Harvard Medical School, in which volunteer participants agree to have their entire genome sequenced and made public. Founded in 2005 by George Church, a professor of genetics at Harvard Medical School, and still run by him in 2016, the project states as its operating principle that sharing data is “good for science and society.” At the time of its founding, very few sequences had been completed. As of 2015, the project had compiled more than two hundred whole genomes. But sequencing has become much more common now, to the point where you can submit a sample of your dog's DNA for genotyping for less than one hundred dollars if you want to know what breed Fluffy's great-great-grandparents were.

Angrist, who sports a salt-and-pepper close-cropped goatee and thick glasses, is an intriguing hybrid: he has a Ph.D. in genetics from Case Western Reserve University and an M.F.A. in writing and literature from the Bennington Writing Seminars. (Angrist wrote about his experience with the Personal Genome Project in his book
Here Is a Human Being: At the Dawn of Personal Genomics
.)

The Harvard Personal Genome Project wasn't just making genomes available to other researchers; it was also making them available to the public. Participants are specifically not promised confidentiality since “genomic data is as unique as a fingerprint to an individual and can never be fully anonymized.”

Angrist is a passionate advocate for the sharing of research results with human participants. He's written numerous scholarly
articles on the subject, including one titled, “You Never Call, You Never Write: Why Return of ‘omic' Results to Research Participants Is Both a Good Idea and a Moral Imperative.” According to the article's abstract: “Return of genomic data to those who want it, even if a difficult undertaking and even if the meaning of the data is unclear, engages participants in science and the research enterprise, and positions them to be better stewards of their own health and wellbeing.”

Angrist thinks the real problem with institutions insisting on confidentiality is not the Common Rule, or privacy issues, but simply that they are risk-averse. There's a history of treating people who participate in research as anonymous. If researchers don't have to know any personal information about the subjects whose tissues they work with, they don't have to take any responsibility for those people. Without that responsibility, they can focus all their time on their work rather than on placating participants who might be requesting more information about what they're doing (a thing Angrist has sympathy for).

There is a tendency to dehumanize research subjects; even calling them
subjects
is dehumanizing. According to Angrist (and others, including many involved with the Precision Medicine Initiative), those who choose to contribute to these studies should be referred to as
participants
or
partners
.

“I think we have come to a place where the term
subjects
is not only offensive, it's inaccurate. If you are a subject, you have nothing to say about anything. If you are a participant or a partner, then you do have something to say. And science needs to listen,” says Angrist.

In his field of genomic studies, participants expect to be told what researchers learn about them. Indeed, the incentive that is often offered to prospective participants is a copy of the survey results.

When Angrist was on Duke's IRB committee, he saw firsthand how restrictive the consent forms could be. He would regularly see protocols that said the investigator would not return information to the prospective participant because it was not clinically actionable—that is, the participant wouldn't be able to do anything with the information other than know it. “It's condescending,” Angrist says. “The consent form is already twenty-eight pages long and designed to protect the institution from getting sued. To say also that you will get nothing, and it will be better for you, just feels like an insult.”

So how does one turn around this entrenched culture of keeping information close to the researchers' vest? Incentives, Angrist says. He thinks institutions that are funding the research, such as the National Cancer Institute and the NIH, could add a little more funding to help researchers figure out how to return results. “Returning results is a concrete way for an investigator to say to a participant, ‘I have some information about you. It may or may not be useful, but if you are interested in receiving it, I am prepared to share it with you.'” In other words, it's a way for scientists to treat participants as people rather than as cells on a spreadsheet.

To my mind, as long as scientists are pursuing ethical research—which I imagine is the case most of the time—and participants are informed and openly consenting, the barriers seem largely unnecessary. I knew that the researchers I spoke to about Thomas's gifts were not trying to steal our son's tissue. Since Thomas was dead, these donations were his legacy. These were his first and last contributions to the world. What good is a legacy if no one in the family can pass it down because we don't know about it?