Europe’s race to ramp up genetic tests for autism

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To improve that situation, a few European governments are channeling funds toward expanding the number of genetic tests their clinics routinely offer. Had Gabin been born in the Netherlands, for instance, his doctors might have opted to sequence his exome, the protein-coding portion of his genome. “We are really in a transition phase. Rather than testing one, two, three, four genes, everyone is now switching to whole-exome sequencing,” says Ype Elgersma, professor of molecular neuroscience at Erasmus University in Rotterdam.

Likewise, France and the United Kingdom have launched ambitious plans to build sequencing facilities, create databases and integrate the results of genetic testing into standard healthcare. In October, the U.K. announced plans to sequence 5 million genomes within the next five years. The scope of France’s Genomic Medicine 2025 Plan is smaller, but Bourgeron says it will help build the case for regular sequencing of people’s entire genomes. Both projects may provide autistic people with more opportunities to get tested. In January, for example, 13 centers in the U.K. began offering whole-genome sequencing to people with cancer and unexplained conditions, including autisim.

In some ways, Europe has been the leader in the realm of genetic testing for autism. The European Union, along with industry and institutional partners, invested heavily in a collaboration called EU-AIMS, the largest single grant for autism research in the world. The first phase of the project, which ran from April 2012 to March 2018, sought to identify biomarkers of autism, among other goals; the next stage, AIMS-2-TRIALS, which launched in June, focuses on developing and testing therapies. “In one or two years, we will have a website with access to all the genetic information from this project,” says Bourgeron, who oversees the initiative’s genetic research.

The Council of Europe, a human-rights organization with 47 member states, was the first in the world to write laws addressing genetic testing. That document, the Convention on Human Rights and Biomedicine, or the Oviedo Convention for short, debuted in 1997 — several years before the U.S. drafted any similar legislation. The document recognized an individual’s right to know her genetic background, banned discrimination on those grounds and introduced the right to genetic counseling.

A follow-up treaty from 2008 made several additions, including a ban on direct-to-consumer genetic testing for variants associated with health conditions. Over the past decade, 29 European countries have ratified the convention into national law, and 5 have ratified the follow-up treaty. Last year, 19 member states of the European Union signed a declaration to share genomic health data across international borders, with the goal of sequencing 1 million genomes by 2022.

Despite those commitments, however, there are no laws that are valid throughout Europe. This lack of consistent regulations has left healthcare professionals in limbo, unsure about how to ramp up genetic testing for autism or other conditions. In Sweden — which signed the Oviedo Convention but did not ratify it — doctors in some regions order comprehensive testing and those in others, none. “It looks very different across the country,” says Kristiina Tammimies, assistant professor of neuropsychiatry at the Karolinska Institutet in Stockholm.

In Germany, too, the tests can vary depending on which lab performs the analysis. Germany’s health service pays for sequencing up to 25 kilobases, or five to seven genes, for any condition, including autism. Clinical geneticists often send blood samples to labs without specifying which genes should be tested. The labs look at thousands of genes and then suggest relevant ones to the doctors, who bill the government or health insurance for only that set.

But the situation in Spain suggests that funding is only one obstacle. Although the Spanish government covers the cost of genetic testing for autism, only about half of autistic children are offered any test, according to a 2017 study.

ven when clinicians and families know about the available tests and the costs are covered, they may still eschew testing because there is confusion over what to do with the results. The balance between an individual’s right to privacy and the impetus to disclose genetic results varies enormously across borders, in part thanks to cultural differences. Extreme stances on either end have dramatic consequences for how doctors and families approach genetic testing.

In the U.K., the Joint Committee on Genomics in Medicine recommends that test recipients share genetic results with relatives who might benefit from knowing them — including, say, family members with a propensity for heart disease or a particular cancer. If the recipients choose not to disclose their results, the committee encourages doctors to contact family members themselves, even without their patient’s explicit consent. Many British healthcare professionals say they would prefer to preserve a patient’s confidentiality but also worry about being liable for negligence if they don’t reveal potential risks to family members.

France takes this stance one step further: According to a 2011 law, French citizens have a legal obligation to disclose any “severe genetic anomaly” associated with a serious illness to their relatives, provided preventive measures or treatment is possible. But researchers are still debating which mutations should fall under this law.

The results of genetic tests are even less private in Switzerland and the Netherlands, both of which let insurers consider this information when crafting life-insurance policies. In Norway, people with certain genetic mutations, including some associated with autism, may have to pay more for private health insurance. Although only 9 percent of parents of autistic children in that country say they are opposed to genetic testing, as much as 67 percent fear that their children could face insurance discrimination.

By contrast, Germany takes confidentiality so seriously that doctors may not discuss a child’s results even with her other doctors, without written consent from her parents. “Sometimes it’s really too restrictive for the practical workday and routine,” Lemke says. Lemke credits history — and powerful memories of Nazi eugenics during World War II — for Germany’s stringent laws. “We want to really make sure that it’s really strictly regulated and nothing can go wrong,” he says.

Following the Oviedo Convention, most European nations adopted laws to protect their citizens from genetic discrimination. Greece went as far as to amend its constitution to fold in clear protections. Some countries, such as France and Portugal, prohibit insurance companies from using genetic results to set premium levels. Others, such as the U.K., have a ‘soft law’: Since 2001, the British government has drafted periodic guidelines on what genetic information insurance companies may request from consumers.

reap the full benefits of genetic testing, what’s needed, experts say, are more guidelines, standardization across countries, more funding and greater awareness among healthcare professionals. There are several new initiatives in Europe that could make testing for autistic people more consistent throughout the continent.

For example, in 2013, the European Board of Medical Genetics launched a continent-wide registration system for genetic counselors and started offering professional guidelines to its registrants.


All of these countries are being forced to reckon with the growing demand for genetic testing, much of it from parents of children with rare conditions