“Improving Access to DNA Testing and Cancer Care: Insights from Clinical Geneticist Margreet Ausems”

Cancer can affect anyone. Nevertheless, clinical geneticist Margreet Ausems mainly sees white and highly educated patients in her consulting room. She rarely sees patients without further education or with a migration background. “But of course those people also get cancer. How come they don’t end up with us?”

Ausems specializes in cancer. Patients with breast cancer or ovarian cancer come to her to have her examined whether hereditary predisposition played a role in the development of their cancer. If so, this is often the starting point for an investigation into carrier status in the family. And the patient himself may be eligible for preventive operations, extra check-ups or adapted treatment. “Anything to prevent someone from dying of cancer at a young age.”

It is therefore crucial that all cancer patients who are eligible for DNA testing are also offered this, Ausems believes. “And how distressing that we do not reach some groups.” Ausems had felt that way since she started in clinical genetics. “A year after graduating, I worked as a gate doctor in emergency care and surgery in Overvecht in Utrecht. A fantastic year, the whole society passed by. But when I started working as a genetics assistant at the university hospital a year later, that diversity had disappeared.”

Ausems is trying to improve access to DNA research. She trains general practitioners and medical specialists. She set up a communication training for medical specialists. She made patient letters more understandable for the low-literate. “I am proud of everything we have set up. But it’s not enough. We are still not sufficiently reaching the most vulnerable groups of patients. We therefore need to organize healthcare differently.” As professor of clinical oncogenetics at UMC Utrecht, Ausems wants to work on this. She delivered her inaugural lecture at the beginning of April.

You should not tell a story and then ask: did you understand everything? Then everyone says yes

How big are the differences?

“We started asking everyone with cancer who was referred to us: what is your highest level of education? And we immediately saw that very few people are low-skilled: 4 percent. Almost 40 percent of the patients referred are highly educated.”

“We later showed that considerably less genetic testing is done in young Turkish and Moroccan-Dutch breast cancer patients: 48 percent of patients with a Turkish or Moroccan background received a DNA test compared to 81 percent of patients without a migration background.

“And it is precisely for these women that there is often good reason to do DNA research. Women with a Turkish or Moroccan background are less likely to get breast cancer, but when they get it, it is often at a younger age and the cancer is more aggressive.”

How come they stay away?

“Some patients have limited health literacy. This means that they are less able to find, understand and apply information about their health. As a practitioner of someone with cancer, you have to recognize that problem. You should not tell a story and then ask: did you understand everything? Then everyone says yes. A simple way to find out if people understand information is the question-back method. What I ask is: what are you going to tell your son about our conversation?

As a healthcare provider, you don’t know that there are people for whom it is already difficult to show up for an appointment

“As doctors, we often underestimate how complicated a treatment process is. A referral to a geneticist in a teaching hospital is a barrier in itself. A colleague once saw a man standing in front of the elevator. He didn’t have an appointment until a day later, but already wanted to know where he had to be the next day, so he went from Hilversum to the hospital in Utrecht on his moped.

“If you, as a healthcare provider, speak to that man the next day, you don’t know. Then you don’t know that there are people for whom it is already difficult to show up for an appointment. We don’t stop there.

“I think we can make genetic cancer care more accessible if the attending surgeon, gynecologist or urologist talks to the patient about DNA testing. Only patients with an abnormal result then come to the clinical geneticist. We have shown that this is possible. That it works. But there was resistance to that.”

Whose?

“From practitioners who say: genetics, that’s your profession, you have to do that, we don’t have the time for it. And also fellow geneticists who think, this is our job after all. But we are a very small profession. There are only 160 clinical geneticists in the Netherlands, and some of them do oncogenetics. So there is a waiting list. It works more efficiently if we make genetics more mainstream.”

You put the ball in all projects with the practitioners. You don’t target patients.

“Of course we can make leaflets or websites for patients. But I believe that we reach a lot more people if you change the behavior of practitioners. Take GPs. They sometimes think that they do not have to interfere with the patient with cancer, because that happens in the hospital. But that doesn’t always happen. So in refresher courses I tell them: you also have a part to play in that.

“If you see that someone of 36 has had breast cancer, maybe does not speak the language well, or is somewhat less educated, and you do not see a letter from a clinical geneticist in the file, then I hope you will ask questions about that.

I want to implement it nationwide. But I don’t get funding for it

“We have carried out a pilot in which we encourage general practitioners to actively identify women who have survived ovarian cancer in their practice and to invite them for a clinical genetics study. Ovarian cancer is hereditary in 10 to 15 percent of women who get it. Therefore, since 2015, all women with ovarian cancer are eligible for genetic testing.

“Good, but I was concerned about all women who have had ovarian cancer in the past. There are more than 5,000 surviving women, all of whom have nieces, daughters and sisters who could benefit from DNA testing. That’s low hanging fruit. Not complicated. And you will save lives with it. I want to implement it nationwide. But I don’t get any funding for it.”

Why not?

“You will never quite find out. You submit a proposal, it is assessed and then rejected.”

But don’t huge amounts of money go to molecular cancer research in the Netherlands?

“Beats. And the social impact of this is less great. That’s my irritation too. Yes, of course it’s not super innovative what we do, but it can save lives. The GPs who participate have more knowledge of ovarian cancer. They are more alert if they see someone with cancer in their practice without a letter from the clinical geneticist.”