News & Views item - October  2012

 

 

US President's Bioethics Commission Addresses Whole Genome Sequencing. (October 23, 2012)

On October 11 US President Obama's Presidential Commission for the Study of Bioethical Issues released its report Privacy and Progress in Whole Genome Sequencing.

 

Its take home message: "to realize the enormous promise that whole genome sequencing holds for advancing clinical care and the greater public good, individual interests in privacy must be respected and secured. As the scientific community works to bring the cost of whole genome sequencing down from millions per test to less than the cost of many standard diagnostic tests today, the Commission recognizes that whole genome sequencing and its increased use in research and the clinic could yield major advances in health care. However it could also raise ethical dilemmas."

 

Twelve recommendations are promulgated by the Commission with the view to "help craft policies that are flexible enough to ensure progress and responsive enough to protect privacy."

 

In the letter to President Obama accompanying the report:  "The Commission recommends strong baseline protections for whole genome sequence data to protect individual privacy and data security while also leaving ample room for data sharing opportunities that propel scientific and medical progress. Other recommendations include that clinicians and researchers use robust and understandable informed consent procedures and engage in productive exchanges of those collections of genomic information that are based on such consent procedures. The Commission recommends that the federal government facilitate broad public access to the important clinical advances that result from whole genome sequencing. The Commission also urges federal and state governments to ensure a consistent floor of individual privacy protections covering whole genome sequence data across state lines, regardless of how the data were obtained."

 

As illustrations of the benefits and consequences that may result from the knowledge of whole genomic sequencing the Commission gives two case histories reprinted below.

 

 

The Potential of Whole Genome Sequencing

 

In 1996, Retta Beery gave birth to apparently healthy twins Alexis and Noah.1 It soon became clear, however, that something was wrong; the twins cried nonstop and had developmental problems. Over the next two years, Retta and her husband Joe endured the physical, emotional, and financial costs of visiting numerous specialists, putting their young twins through countless tests, and having their children undergo surgery. None of these steps provided results or solutions.

 

In 1998, the twins were diagnosed with cerebral palsy and a related course of treatment was outlined. Although the treatment yielded some symptomatic improvement, Retta felt that the diagnosis was incorrect. In 2002, the Beerys were starting to look at wheelchairs and feeding tubes when Retta, after four years of research, stumbled upon an article on DOPA-responsive dystonia (also known as Segawa’s dystonia) and suspected that this was the disease that the twins had. The Beerys contacted a specialist, and after a physiological test the twins were diagnosed with Segawa’s dystonia. They began a new course of treatment to increase brain dopamine, which yielded a dramatic improvement in their health.

 

In 2009, Alexis developed breathing problems and was forced again to endure multiple emergency room visits and a battery of tests and visits to specialists. In August 2010, the Beerys went to Baylor College of Medicine for diagnostic whole genome sequencing. By November, Alexis’s and Noah’s whole genomes had been sequenced. Their data were compared to other whole genome sequences in databases, such as the Baylor Human Genome Sequencing Center’s database, to reveal what was unique about the Beery twins’ genomes. Clinicians now had answers for the family. The geneticists had uncovered an extremely rare and only recently recognized genetic cause of DOPA-responsive dystonia producing a deficiency of not only dopamine but also serotonin production in the brain. Armed with this new information, the Beerys returned to their neurologist, who amended the treatment regimen for Alexis and Noah with an over-the-counter supplement. Within a month, Alexis’s breathing problems disappeared.

 

As a result of that final piece of the puzzle—the information provided by whole genome sequencing—Alexis is able to breathe normally and can now even compete in sports. Both children have a definitive diagnosis, and are expected to live long, healthy lives.

The Challenge of Privacy

 

Victoria Grove’s sisters struggled with a difficult genetic diagnosis: alpha-1 antitrypsin deficiency. The genetic illness meant that her sisters’ bodies did not make enough of a protein that protected their lungs and liver from damage, which could lead to emphysema and liver disease.

 

Victoria wanted to help them, and in 2004 agreed to enroll in a research study of families with alpha-1 antitrypsin deficiency. “I just knew I didn’t have it, so I signed up for the study.” But the tests came back positive—Victoria had the same genetic mutation as her sisters. She did not yet have any symptoms, and wanted to keep her test results private, so she did not tell her doctor.

 

In 2005, Victoria got tested again to confirm the research study results. She used a private company and had the results sent directly to her. Victoria’s second test came back positive, and she chose again not to send the results to her doctor, fearing that the information would be included in her medical record. Victoria worried that this information could lead her insurance company to drop her coverage or charge her higher rates. Victoria kept her genetic results private for nearly three years.

 

The pivotal moment came when Victoria felt she was coming down with a bout of pneumonia but could not convince the nurse practitioner who saw her to order the X-ray necessary to prescribe antibiotics. Victoria went home without antibiotics, her condition worsened, and she called back a few days later. The nurse asked Victoria to come in again, but Victoria told them she could not drive across town in the snowstorm that had immobilized the city. She could, however, get to a pharmacy near her house if the office called in the antibiotics. The nurse on the phone insisted this was not possible. “My emotions just took hold and I cried ‘I have alpha-1 and I need that antibiotic,’” Victoria said. “At that point the cat was out of the bag.”

 

Today Victoria gets regular treatments for her condition. She recognizes that fear kept her from providing her clinicians with crucial information. Still, she can’t convince either her brother or her son to get tested for alpha-1. Victoria says both men are aware that there is federal protection from discrimination in employment and health insurance, but fear that these laws will not provide sufficient protection. Her son already has to buy his own health insurance; he does not want any information in his medical record that could jeopardize his job or his access to health insurance. “I can imagine in a job situation, it’s expensive to take on someone if they’re ill. And you can always get rid of people for other reasons. I assume that’s going on.”