UMC Utrecht makes genetic testing more accessible
UMC Utrecht makes genetic testing more accessible
Is my breast or ovarian cancer hereditary? To answer that question, patients are referred to the genetics department of a university medical centre. But that referral does not always take place or takes place relatively late. UMC Utrecht therefore trained healthcare professionals from eight hospitals to request genetic testing themselves. As a result, patients receive genetic testing faster.
The project was carried out by physician-researcher Kyra Bokkers, who obtained her PhD at UMC Utrecht on 8 June 2023. She did so under the supervision of Margreet Ausems (professor of clinical oncogenetics) and Ronald Zweemer (professor and head of department of oncological gynaecology). For this, UMC Utrecht collaborated with all hospitals in the region that refer patients with breast and/or ovarian cancer to UMC Utrecht's clinical geneticists. For ovarian cancer, this involved Diakonessenhuis Utrecht, St. Antonius Nieuwegein/ Leidsche Rijn and Meander Medisch Centrum Amersfoort. And for breast cancer, in addition to these three hospitals, UMC Utrecht cooperated with Alexander Monro Ziekenhuis Bilthoven, Gelre Ziekenhuis Apeldoorn, St. Jansdal Ziekenhuis Harderwijk, Rivierenland Ziekenhuis Tiel and Beatrix Ziekenhuis Gorinchem.
Patients with breast or ovarian cancer may have an inherited predisposition to cancer. To find out, the treating specialist at their own general hospital normally refers the patient to the genetics department of a university medical centre. There, the patient is educated about genetic testing and blood can be drawn for testing. Furthermore, the clinical geneticist checks the family history in detail. Is breast or ovarian cancer common in the family, or other cancers that could fit a genetic predisposition? And who has an increased risk of also developing the disease? After all, if you have a gene mutation that makes you more likely to develop ovarian or breast cancer, it may also affect your mother, daughter(s), other female as well as male relatives. Moreover, it may also affect how to treat your breast or ovarian cancer in the most effective way.
No equal access
As important as this genetic testing is, women with ovarian or breast cancer are regularly referred to a university medical centre relatively late or not at all. There may be several reasons for this. When someone is diagnosed with cancer, there are so many things to discuss. And in the overload of information, the specialist may then wait a while before bringing up genetic testing. This may especially be the case with patients who have difficulty reading and writing, do not speak the Dutch language or are less health literate. This was recently addressed by Kyra Bokkers' PhD supervisor Margreet Ausems in her oration on 6 April 2023.
In addition, the stage at which the disease is detected may also play a role. Ovarian cancer, in particular, is often discovered at a relatively late stage. If the patient then soon passes away, genetic testing is often no longer considered, while it could still be important for family members who might also be having the genetic mutation.
Genetic testing as routine care
Kyra plunged into the question: how do more people with breast or ovarian cancer get access to genetic testing? The solution was found in 'mainstreaming'. This means that genetic care is integrated into the routine care of cancer patients in their own hospital: genetic testing is explained and requested by non-genetic care professionals, such as the treating physicians, nurse specialists and nurses.
Kyra: "We especially listened a lot to healthcare professionals and patients for this project. We organised several focus groups with healthcare professionals and patient representatives, and together we considered: what is needed to make this work? Based on this, we developed knowledge modules and training courses, which can be taken online. It took about six months per disease to prepare everything thoroughly and before we really got going." This is the first time in the Netherlands that mainstreaming has been integrated within cancer care after going through a jointly developed online training programme.
No need to travel
Mainstreaming makes applying for genetic testing easier. And the procedure is also less burdensome for patients. After all, they do not have to travel to UMC Utrecht yet and are informed by healthcare professionals they often already know. This is also useful when patients have less language or social skills, or are less mobile.
The doctor or nurse specialist goes through the genetic testing application procedure with the patient. He/she discusses genetic testing and asks questions about the family based on checklists. The patients can also have a blood sample taken at their own hospital on the same day; this does not have to be done at UMC Utrecht either. The blood and other data are then sent to UMC Utrecht.
Kyra: "Here, we then carefully check all the genes that could be related to breast and/or ovarian cancer. And we write the results of the test in a letter to the patient, treating specialist and GP. If no hereditary predisposition is shown, and there is no reason for further research or additional monitoring based on the family info, patients no longer need to be referred to UMC Utrecht."
But what if something is ‘wrong'? Kyra: "If the blood shows an abnormal result, we immediately include an appointment in the letter, so that the patient will meet a genetic care professional at UMC Utrecht. During that visit, we’ll give extensive information about what it means to have a gene mutation. And we’ll prepare family letters, which patients can give to family members who may also be hereditary predisposed for cancer."
Even if the blood test does not reveal an inherited predisposition, patients may still be invited to a meeting with a genetic health professional. Additional monitoring recommendations are then given, for example.
Kyra: "With breast cancer patients, it often happens that there are several family members who have also had breast cancer. In some cases, this can be a reason for additional breast check-ups for the patient or family members."
Furthermore, a consultation with a clinical geneticist may be necessary to discuss additional genetic testing. "In the blood test, we look at the main genes that give an increased risk of ovarian and breast cancer, but there are also rarer genetic causes that are not routinely tested unless family records show they should be further looked into," Kyra explains.
Time is saved
Mainstreaming not only makes genetic testing more accessible but it also saves a lot of time. This is because patients won’t have to wait for an appointment at the genetics department in a university medical centre to start genetic testing. Normally (without mainstreaming) and depending on whether how urgent a patient needs testing, it will take anywhere from two weeks to several months before a patient will get his/her first appointment at UMC Utrecht or another university medical centre. The result will then take another four to eight weeks to arrive.
Mainstreaming speeds up this process considerably by removing an intermediate step (the referral) from the normal genetic procedure, because now the genetic test is discussed, and a blood sample is already taken at the patient's own hospital. This may have far-reaching implications for how a patient’s disease will be treated, among other things.
Kyra explains: "For example, with relatively young breast cancer patients, it is hugely important to do genetic testing as soon as possible. If it turns out to be hereditary, the patient may choose, for example, to have the entire breast or even both breasts removed immediately instead of having breast-conserving surgery. And the result can sometimes affect additional treatment, such as chemotherapy. Moreover, a gene abnormality may also increase the risk of ovarian cancer." The latter is important to know in time, as ovarian cancer is often detected at a very late stage and is difficult to cure. If you know you have this gene mutation before developing the disease, you could be advised to have your ovaries and fallopian tubes removed preventively.
Based on the findings of the genetic test, a customised treatment plan can thus be made for the patient. The treatment is then usually simply given in the patient's own general hospital, so the patient does not have to keep travelling up and down to UMC Utrecht.
Even when genetic testing is no longer decisive for treatment, it is still important to do genetic testing quickly, Kyra stresses.
"When people have already had surgery, for example, there is less urgency. But even then, genetic testing can still be relevant for the patient. For example, if a genetic predisposition is shown, patients may sometimes have an increased risk of developing cancer a second time. Preventive measures can then be taken for this. And even when the disease is detected at a late stage, as is often the case with ovarian cancer, the results of hereditary testing can be less urgent for the patients themselves, but for family members it can still be lifesaving. This is also why mainstreaming is important."
The training for healthcare professionals has now also been offered to healthcare professionals working in hospitals in other regions. And Kyra and her colleagues also plan to make this training available nationwide via the Arts en Genetica (‘Physician and Genetics’) website. Kyra has also developed a website that helps non-geneticists - healthcare professionals from the Utrecht region who have followed the training - with the application procedure for genetic testing. This website will soon go live.
Kyra hopes that mainstreaming will also be used by other hospitals, and that this way of working will ultimately become standard procedure. "Most healthcare professionals indicate that it is feasible to integrate the extra tasks into their daily practice. Moreover, the majority of patients also indicate that they feel well informed by non-genetic healthcare professionals. Our study shows that, with mainstreaming, the good quality of genetic care is maintained, and genetic testing is indeed discussed more often." Meanwhile, at the initiative of UMC Utrecht, a nationwide study on mainstreaming genetic testing with metastatic prostate cancer is also underway, based on this project’s format.
- About 18,000 Dutch women are diagnosed with breast cancer every year.
- Survival depends on the stage of the disease. 95% of stage I patients are still alive after 10 years, while stage IV patients (metastatic breast cancer) have a 10-year survival rate of 8%.
- Ovarian cancer is less common and often detected at a late stage. The disease affects around 1,300 women in the Netherlands every year. Around 38% of ovarian cancer patients are still alive five years after diagnosis. This 5-year survival rate was 32% in 1990 and has steadily increased since then. But this percentage is still gloom compared to many other types of cancer.
- Before mainstreaming, genetic testing at UMC Utrecht took place within 6 months with 56% of ovarian cancer patients. After the introduction of mainstreaming, it was offered to 70% of the patients within 6 months of diagnosis, and to 80% within a year. For breast cancer, this is more difficult to research, and no exact percentages are available yet.
- All regional hospitals involved in mainstreaming ovarian cancer care will continue with this new procedure. The impact on breast cancer care is also very positive: only two hospitals will no longer be mainstreaming.
(Sources: IKNL and UMC Utrecht.)
I'm not sick (yet) but fear I could be at risk
Kyra's research focuses on patients who have already been diagnosed with breast or ovarian cancer. But how does it work if you don't have ovarian or breast cancer yourself (yet), but you suspect you might be at risk because these cancers run in your family? Can you then participate in mainstreaming in the Utrecht region?
Kyra: "No, those patients are referred directly to the clinical geneticist, if their specialist indeed suspects that there might be a hereditary factor involved. This is because general hospitals will then have to consider too many extra intricate factors. For example: if heredity might be involved, it is better to test this with someone who already has cancer, because most data can be derived from that. So, if people are not ill themselves (yet), we will first try to find out if a family member has already had cancer. If that is the case, we will find out whether that relative is willing to undergo genetic testing. We might also be able to retrieve the tumour tissue of a diseased relative, and look further from there."