"I don't know what information I want," a woman whose whole genome was being mapped recently told me. Her son was born with a severe disease, and she agreed to have her genes examined to help find the cause. Scientists were about to sequence the 3 billion molecules that encode the information in her DNA, her unique genetic "fingerprint," the "blueprint" for making her a biologically unique person.
These scientists could then also tell her lots of other information about her and her family -- whether she had mutations associated with breast cancer, colon cancer, Alzheimer's, autism, and other diseases.
"I never really thought about it," she said. "I don't really know what it all means. I guess: Tell me everything."
Only after she heard about the complexities involved -- that it may be upsetting and prevent her from getting life or disability insurance -- did she realize that that may not be a good idea. But she was left unsure what information, if any, she would nonetheless want.
This past spring, scientists posted online the complete genome of cells derived from Henrietta Lacks, revealing information about her -- and her descendants. The researchers withdrew the information when the family, understandably, balked.
Last month, scientists sequenced other cells from her, and the NIH announced that only researchers who applied for permission would have access to the information. In addition, her descendants would have a say in which studies would be done. These events mark major achievements, but also underscore needs to confront several troubling questions that will soon face us all.
A tsunami of genomic info is about to hit us, and we are utterly unprepared. Ten years ago, the cost of sequencing a person's whole genome was $1 billion. But the cost has since dropped to around $3,000, and in a few years will be about $1,000 or less. Soon, many of our complete genomes will be sequenced.
What happened to Ms. Lacks, a poor African-American woman, in the early 1950s, was unfortunate and unfair. Scientists were able to grow her cells in a lab and used them for thousands of experiments. She and her family were never told that her cells were being used for research.
Millions of us also have "left over tissue" stored in hospitals and biobanks, and researchers routinely study it without telling us. Luckily, our names are generally not associated with it -- unlike in the case of Ms. Lacks, whose name was used to dub the specimens "HeLa" cells.
Increasingly, though, scientists will map our genomes in both our left over samples and ongoing research and clinical care.
Clearly, going forward, we should be told that research may be conducted on our samples, without our names attached, and given a choice. Yet these questions are currently arising in clinical settings, too. Physicians are now mapping the whole genomes of countless patients with cancer and other conditions, and will surely do so more widely in upcoming years.
Questions emerge of what tests scientists and doctors should conduct, and tell us about, and who should decide. Should they search for everything they can find, and give us the results?
These are the questions the woman above debated.
Arsguably, researchers and physicians should tell us when they find mutations for severe diseases for which treatments exist, but what about if they find mutations that somewhat predispose, but do not completely predict disease, when no treatment has yet been discovered? Some people may want to know -- if, for instance, they have mutations linked with Alzheimer's or are carriers for genes that increase risks of autism -- but others probably won't.
Recently, the American College of Medical Genetics recommended that for all patients who undergo this testing, labs should test for 56 genes and give patients the results. Hence, for an infant tested for a disease she has, the parents will be told whether she also has genes associated with breast cancer and other diseases that won't affect her until she is an adult, if ever. The parents may become over-protective, the child overly afraid as she grows.
Moreover, the information could prompt discrimination. The Genetic Nondiscrimination Act charges health insurance companies fines if they discriminate. But the law does not cover life, disability or long-term care insurance companies, who increasingly ask to see the results of any genetic tests conducted on us or our family. At workplaces and elsewhere, subtle discrimination persists.
Underlying questions arise of how much are we willing to pay for privacy, and how much we value confidentiality vs. possible advances to science and our own health. We now confront these dilemmas with regard to not only Facebook and the National Security Agency surveillance, but also biobanks, storing our genetic data.
More discussion, research and education about these issues, involving a variety of stakeholders (patients, families, communities, health care providers, policy makers, and researchers) is urgently needed. Most patients and doctors still do not understand key aspects of genetics -- for instance, how to interpret test results.
Like Henrietta Lacks' family, millions of us will soon confront questions about our genomes. We should learn as much as we can, and plan more carefully now, before it is too late. Our genomic data may reveal aspects of our fate, but we can still potentially control how and when the information is used.
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