Marcia Frellick

September 23, 2016

BARCELONA, Spain — Ethical considerations related to consent, privacy, and confidentiality have been upended by genetic testing, according to members of a panel who spoke during a discussion here at the European Society for Immunodeficiencies 2016 Biennial Meeting.

These issues have been "blown out of the water in the context of genetics," said panelist Simon Woods, PhD, codirector of the Policy Ethics and Life Sciences Center at Newcastle University in the United Kingdom. "As soon as you start looking at one individual's genetics, you are, by default, looking at family members' genetics."

In some cases when genes are sequenced, clinicians may find not only a gene known to be associated with immunodeficiency, but also variants that could be associated with other diseases, such as cancer, said panelist Alain Fischer, MD, an immunologist and gene therapist at the Necker Hospital in Paris.

"What does the physician do with this information?" he asked.

In the future, gene sequencing will likely be used to screen newborns for primary deficiencies, he pointed out. "If we do that on a global scale, we will diagnose diseases for which we have no therapies?"

Patients must wrestle with how much they want to be told and whether they can trust that the information will be confidential. And, as the panelists pointed out, if there is no treatment for a disease, do patients, or their parents, want to know they have it?

"I think we have to give the family the odds, and then we as physicians have to listen to them," said panelist Hans Ochs, MD, the Jeffrey Modell Endowed Chair in Pediatric Immunology Research at Seattle Children's Hospital.

Addressing Cultural Taboos

The challenges physicians face when they treat patients from cultures in which even talking about genetic diseases is taboo was discussed by Dr Fischer.

He described the case of a patient who was diagnosed 20 years ago with severe combined immunodeficiency disease (SCID). The woman grew up, married a cousin, and had a baby. At 6 months of age, the baby experienced respiratory distress and died.

This woman "never told anyone she had severe combined immunodeficiency, and the risk that the baby would be affected because she had married a cousin was very high," said Dr Fischer.

"We need to do research in sociology to better understand how people perceive the information we give to them," he added. "It's no longer a question."

A member of the audience, who identified herself as a physician from Iran, recounted the time she was approached by a patient's husband who found documents about his wife's health and wanted answers about the disease.

She pointed out that health information can have an effect on a woman's chance of marriage, which can lead to people hiding diseases.

Dr Ochs said that when a physician is asked by someone other than the patient to share medical information, the physician should treat the interaction as a priest would.

"You cannot disclose information without the consent of the patient," he said.

Availability But No Access?

Approval from insurance companies for genetic testing is an issue in the United States, said panelist William Blouin, MSN, from Miami Children's Health Systems, who was representing the International Nursing Group for Immunodeficiencies.

"The ethical issues around having a diagnosis and having access to care are something we need to be able to address," said Blouin. "These will differ according to the health system and, unfortunately, in the United States, our health system is driven as a for-profit system."

"I have patients with X-linked SCID in the family and family members who are coming into their child-bearing years who cannot get insurance-company approval to get testing," he reported.

"If you've got a clear family history and there's potential for you to give birth to a child with a genetic disease, your insurance should pay for that — somebody should pay for that — so you can at least make a decision about whether to terminate a pregnancy," Blouin told Medscape Medical News.

Ethical Issues in Developing Countries

A woman who identified herself as a resident of Serbia pointed out that developing countries like hers can lack resources and information about genetic testing and counseling.

Dr Ochs said he agrees that the ethical problems surrounding genetic testing in developing countries are significant.

For example, what happens when it is determined that a patient in a developing country needs a transplant?

"It's very difficult to get a child from Somalia to New York, let's say, because it would not be approved by insurance," said Dr Ochs. This is "a real dilemma for countries in a developing phase."

 
Patients, too, have moral responsibilities.
 

"The ethical challenge is not just for physicians," added Dr Woods.

"A moral problem is a moral problem for all of humanity," he explained. "Therefore, the solution doesn't lie just with doctors."

He wondered aloud whether patients have a right to remain in ignorance when a lack of information will have direct ethical implications for other people.

"I don't think it's a privilege of patients to say they have a right to remain ignorant," Dr Woods explained. "I know some people choose not to know their genetic heritage, but it seems, to me, reasonable to challenge that in a gentle and fair way because patients, too, have moral responsibilities," he said.

Dr Woods, Dr Ochs, Dr Fischer, and Mr Blouin have disclosed no relevant financial relationships.

European Society for Immunodeficiencies (ESID) 2016 Biennial Meeting. Presented September 23, 2016.

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