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In future we'll all access our genomes online

5 October 2015
By Terry Vrijenhoek
Geneticist and editor for SciencePalooza
Appeared in BioNews 822

Aad Klaassen is furious, according to many media outlets in the Netherlands. If clinical geneticists had paid more attention, so he claims, his daughter would never have got hereditary breast cancer.

Klaassen's story runs parallel with the development of clinical genetics. Twenty years ago Klaassen's cousin was diagnosed with breast cancer. She received a letter to give to her relatives, informing them of the risks, but that letter never reached Klaassen, let alone his daughter. He argues that the clinical geneticist should have taken care of that – it shouldn't have been the responsibility of his sick cousin.

However, the clinical geneticist was following the directive that stipulated that it is the patient's responsibility to inform their relatives. That made sense in 1995. At that time, there was no way for doctors to reach family members without breaching their confidentiality. Despite major technological and social developments, when that directive was updated in 2012, that principle remained unchanged. Now Klaassen and his daughter are suffering the consequences of that decision.

A public debate has since ensued in the Netherlands, with many calling for a shift in responsibility from patients to doctors. Frederick Hes, president of the Association of Clinical Geneticists in Netherlands (VKGN) has called this 'practically unfeasible and morally irresponsible'. A shift is in fact necessary, but not in the direction of the clinical geneticist. Instead, I believe that citizens should be able to take a peek into their genetic dossier themselves, for instance via a a secured login code. Making that possible is what clinical geneticists should be working on, in my opinion, and not in chasing relatives, as Klaassen would like.

The Netherlands is generally praised for its quality of genetic care. In 1982 the clinical genetics centres jointly lobbied for a law that would give academic medical centres the exclusive right to provide genetic healthcare services in the Netherlands. They anticipated the rapid developments in genetics at the time (such as routine chromosome analysis to diagnose Down's syndrome). There was a proliferation of providers, and this paved the way for genetic diagnostics and genetic counselling to be included in basic health insurance.

Today, clinical genetics is in a similar situation. The challenges do not differ fundamentally from those of the late '70s – there is a revolutionary technology available, there is a risk of prioritising quantity over quality and there are questions about insurability. Only this time there is something extra: in today's society there is also a strong need for clear information. But here clinical geneticists appear afraid and insecure. Genetics is complex, they say, and therefore it quickly leads to unjustified panic and irrational decisions. That is true, but isn't that a good reason to let everyone get used to his own genetic blueprint?

That people deal with the information differently is clear. Angelina Jolie chose in 2011 for regular monitoring of ovarian cancer, not for the immediate removal of her ovaries (a choice she later made in 2013). Détje Stapel – the daughter of Klaassen – claims she would have had her ovaries removed with 'more than 100 percent certainty' had she known of the risk. Both Angelina and Détje are far from completely rational in their decision making, but each made a choice that suited her individual assessment of the situation. Genetic information helps us to make choices, but it does not determine what choices we make. When clinical geneticists support the choices people make, they guarantee that it's the 'right' choice.

The changing role of clinical geneticists – from authority to advisor – is not yet high on the agenda, but it is crucial for the 'genetic clinic of the future', as is a digital genetic dossier accessed by a personal login, along with counselling of family members outside the doctor's office. How that clinic evolves – and in what form – is subject to social developments and political decisions. Personally, I hope that people who have 'had their DNA done' ultimately form a majority, and that genetic information not only proves valuable in the hospital but also beyond. 

The cultural shift that is needed to deliver a high quality of genetic care in the future won't take place overnight. Klaassen will not see his wishes fulfilled anytime soon. But he has achieved two important things: clinical geneticists are awake, and his family has been informed.

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