ERN GENTURIS spotlights

In the spotlights: Meet Professor Kathleen Claes

Posted on 28 October 2024

Name: Kathleen Claes

City: Ghent, Belgium

Institution: Ghent University Hospital

Position: Clinical laboratory geneticist

Could you tell us a little bit about your background and introduce the members of the team?

I am a clinical laboratory geneticist with a major interest in molecular diagnostics for cancer predisposition syndromes. The increasing knowledge on cancer-associated genes and mutation mechanisms coupled with technological innovation makes this a dynamic and ever-expanding field.

Together with Robin De Putter I am a designated reference within our hospital for ERN GENTURIS. We have close contact with treating physicians taking care of treatment and/or screening of genturis patients, and are actively involved in writing ERN GENTURIS guidelines.

Could you briefly describe the organisation of your MDT (multidisciplinary team)? How often are genturis cases discussed?

Within our hospital we take care of genturis patients with a multidisciplinary team. Hereby, a close link between the laboratory and the clinic is key.

Within the laboratory, there is cross fertilisation between clinical laboratory geneticists, involved in germline testing of cancer predisposition genes and the colleagues responsible for interpretation of next generation sequencing data from tumours. We strongly believe that sharing our expertise on germline and somatic testing ensures the best care for genturis patients, who benefit from evidence-based variant interpretation that guarantees the best outcome with targeted therapies, and adequate follow up for themselves and their relatives at risk. At our biweekly meetings challenges for the workup of complex genturis cases are discussed. These also allow to streamline the multidisciplinary care and make sure our approaches remain well aligned.

Could you tell us briefly about the work you do related to ERN GENTURIS?

Since the start of ERN GENTURIS in 2017 I was involved in taskforce 6 (TF6) on Collaboration, communication, dissemination and patient empowerment. Initially, we were a very small team, which has now been extended with several people.

Furthermore, I participated for the first time as a teacher at the ERN GENTURIS Bertinoro course about hereditary cancer genetics. Participants were clinical geneticists, genetic counsellors, clinical laboratory geneticists, oncologists, pathologists and PhD students and postdocs involved in (hereditary) cancer research. I gave a lecture on tumour versus germline genetics and a workshop on variant interpretation. I really enjoyed the very interactive sessions and the fantastic atmosphere. I highly recommend this course for all professionals starting or already involved in care for genturis patients.

As HCP we are also happy to collaborate on scientific projects and papers involving genturis patients. I co-authored the guidelines for Li Fraumeni and TP53 related cancer syndromes and PTEN hamartoma tumour syndrome. We also contributed to a study on noncoding aberrations in mismatch repair genes in patients with a clinical diagnosis of Lynch syndrome.

As we strongly believe that research related to diagnostics, treatment and disease prevention of genturis patients can be further improved via data sharing, we are very interested to contribute to the ERN GENTURIS registry. We are currently working with the data science institute in our hospital on automatic data extraction from the electronic patient files.

What message do you have for the international medical community?

In fields like cancer genetics, where research is evolving rapidly, international collaborations are essential to staying at the forefront of innovation and providing the best possible outcomes for genturis patients.

In the spotlights: Meet Kleoniki Roka, MD, PhD

Posted on 18 September 2024

Name: Kleoniki Roka

City: Athens, Greece

Institution: Aghia Sophia Children’s Hospital

Position: Senior attending physician

Could you tell us briefly about your background and the work you do related to ERN GENTURIS?

Since I joined the Division of Paediatric Haematology-Oncology, First Department of Paediatrics, National and Kapodistrian University of Athens in “Aghia Sophia” Children’s Hospital, Greece, in 2015, as a Consultant in Paediatric Haematology-Oncology, my main interest has been neuro-oncology and neurocutaneous disorders. In this respect, and under the guidance of the head of the divisional Professor Antonis Kattamis, and the collaboration of the neurology department we organized the first NF Multidisciplinary Team (MDT) Clinic in Greece. My participation in preparing the application for recognition of the Clinic as a National Center of Expertise for NF and Cancer predisposition syndromes and later for full membership to the ERN GENTURIS was pivotal. Indeed, the ‘Aghia Sophia’ Children’s Hospital was accepted as a Full Member for NF1 in the ERN GENTURIS, in January 2022 and it is the only purely paediatric hospital in the Network. Through my capacity as a member of the NF MDT, I have a strong collaboration with the Panhellenic organization of NF patients and their friends known as “Living with NF”, in informing and educating patients, families, and their friends about NF.

The NF MDT Clinic is attending more than 200 children with NF1 and I am responsible for the neurooncological follow-up of the paediatric patients. Through our collaboration with ERN GENTURIS, I am now participating as a member of the extended team of the Thematic Group 1 for Neurofibromatosis, and a member of the core team of Task Force 6 for collaboration, communication, dissemination, and patient empowerment in the European Reference Network GENTURIS.

How does being a member of ERN GENTURIS help doctors in providing care to patients?

Participation as a member of ERN GENTURIS is an excellent opportunity to improve the care of patients through attending educational webinars and regular meetings in which interesting cases are presented and discussed. Doctors may also share their experiences and knowledge in rare and unusual situations. Furthermore, the development of guidelines or recommendations on the surveillance and treatment of rare disease, one of the major tasks of the ERNs, has improved the care of patients.

Could you share your experience with genturis patients and relatives in your clinical practice? How can you detect them and how are they referred?

The NF MDT Clinic operates within the largest pediatric hospital in Athens, Greece providing consultation to all patients with suspected or confirmed NF diagnosis. Furthermore, since the NF MDT Clinic was established, several lectures at congresses of different specialties have been given nationwide to raise awareness and inform about the health services provided through the new structure. The strong collaboration with the Panhellenic organization of NF patients and their friends known as “Living with NF”, in informing and educating patients, families, and their friends about NF has further increased recruitment of patients. Finally, the Clinic accepts referrals of all patients with possible or diagnosed NF for consultation nationwide and from neighbouring countries.

They are usually referred to my practice through multidisciplinary teams, genetic counseling services, or other specialists who suspect a genetic component in the patient’s condition. Additionally, some patients come to us through family members who have already been diagnosed with a related condition, prompting proactive screening and management.

How can ERN GENTURIS benefit patients in your country? Do you use clinical guidelines that are produced by ERN GENTURIS in your clinical practice? If so, what are the main benefits?

ERN GENTURIS has already helped patients in my country by providing clinical guidelines produced by ERN GENTURIS. Health professionals are constantly informed about the diseases, especially NF and the specialized clinic for these patients. Increased awareness has increased referral of patients upon suspicion, and communication with the experts, thus improving early diagnosis and proper surveillance. Patients and their families have welcomed the collaboration within ERN GENTURIS with great enthusiasm and feel more confident that their disease and complications although rare can be discussed with experts in Europe.

What key messages would you like to share with those within your specialty?

Collaboration and exchange of knowledge make us better!!!

In the Spotlights: Meet Angela Mastronuzzi, MD, PhD

Posted on 6 September 2024

Name: Angela Mastronuzzi

City: Rome, Italy

Institution: Bambino Gesù Children’s Hospital (OPBG)

Position: Head of Neuro-Oncology Unit, Area of Hematology-Oncology, Cell and Gene Therapies, and Hematopoietic Transplantation

Could you tell us briefly about your background and the work you do related to ERN GENTURIS?

I am a pediatric hematologist-oncologist with a particular focus on central nervous system tumors and cancer predisposing syndromes, implementing molecular diagnostics to study genetic anomalies both at the germline and somatic levels. I serve as a designated reference for OPBG within the ERN GENTURIS and ERN PaedCan networks, and I specialize in innovative and personalized treatments with a multidisciplinary approach for pediatric cancer, specifically in phase I clinical trials, targeted therapy, cell therapy, and gene therapy.

How does being a member of ERN GENTURIS help doctors in providing care to patients?

Being an ERN GENTURIS member greatly enhances a doctor’s ability to provide comprehensive care to patients, especially in my field. The network facilitates access to a broad range of expertise and resources from specialists across Europe, allowing for collaborative decision-making and tailored treatment plans. This multidisciplinary approach ensures that patients receive the most current and effective care, particularly in complex cases involving rare genetic conditions. Additionally, it provides opportunities for continuous professional development, ensuring that we stay at the forefront of advances in diagnosis and treatment.

Could you share your experience in your clinical practice with genturis patients and relatives? How can you detect them and how are they referred?

My experience with genturis patients has been extensive, particularly in the context of pediatric oncology where I frequently encounter cases involving brain tumors and cancer predisposition syndromes. These patients can be detected through a combination of detailed family history assessments, genetic testing, and clinical features suggestive of an underlying genetic predisposition. Early signs such as multiple primary tumors, young age at onset, or a strong family history of cancer often prompt further investigation.

How can ERN GENTURIS benefit patients in your country? Do you use clinical guidelines that are produced by ERN GENTURIS in your clinical practice? If so, what are the main benefits?

The benefits of ERN GENTURIS for patients in Italy are significant, particularly for those with rare genetic conditions and cancer predisposition syndromes. The network provides access to specialized knowledge and expertise that may not be readily available locally, ensuring that patients receive the highest standard of care regardless of where they live. By facilitating cross-border collaborations and consultations, ERN GENTURIS helps to optimize diagnosis, management, and treatment strategies for complex cases.

In my clinical practice, I do use the clinical guidelines produced by ERN GENTURIS. These guidelines are invaluable in standardizing care, ensuring that all patients receive evidence-based interventions. The main benefits include improved accuracy in diagnosing genetic syndromes, more personalized treatment plans, and better overall outcomes for patients. Moreover, these guidelines help to streamline multidisciplinary care, ensuring that all relevant specialists are aligned in their approach to managing these challenging conditions.

Do you think it would be important to have a separate consultation for the genturis patients in your practice and why, please explain?

I believe it would be very important to have a separate consultation for genturis patients in my practice. These patients often require specialized attention due to the complexity of their conditions, which involve genetic predispositions to cancer and other related syndromes. A dedicated consultation allows for a more focused and thorough evaluation, enabling us to address the unique challenges these patients face, such as the need for tailored screening, early detection strategies, and individualized treatment plans.

Additionally, having a separate consultation ensures that there is adequate time to discuss the genetic implications with both the patient and their relatives, provide appropriate genetic counseling, and coordinate multidisciplinary care. This approach ultimately improves patient outcomes and ensures that they receive the most comprehensive and personalized care possible.

What key messages would you like to share with those within your specialty?

The key messages I would like to share with those within my specialty are:

Early Detection and Genetic Screening: It is crucial to prioritize early detection and genetic screening in patients with a suspected predisposition to cancer. Identifying these conditions early allows for timely interventions that can significantly improve patient outcomes.
Multidisciplinary Collaboration: Managing patients with cancer predisposition syndromes requires a coordinated effort among various specialists, including oncologists, geneticists, surgeons, and counselors. Effective communication and collaboration are essential to providing comprehensive care.
Personalized Treatment Plans: Every genturis patient is unique, and their care should reflect this. Treatment plans should be personalized based on the specific genetic mutations and associated risks, ensuring that each patient receives the most effective and appropriate care.
Education and Awareness: Continual education and raising awareness about cancer predisposition syndromes within our field are vital. By staying informed about the latest research and guidelines, we can better serve our patients and contribute to advancing the field.

Do you have a specific genturis case/family that had an impact on your clinical practice? Please share a story.

Yes, I do have a specific genturis case that had a significant impact on my clinical practice. It involves a family that came to my attention following the diagnosis of a choroid plexus carcinoma in a 3-month-old child. The family history revealed that the maternal aunt and grandmother (the child’s mother’s sister and mother) had both been diagnosed with breast cancer. Despite this, the family believed they were not carriers of a cancer predisposition syndrome (CPS) because BRCA screening had been conducted and returned negative results.

However, after further genetic testing, we discovered a pathogenic mutation in the P53 gene, which was carried by the child’s mother. As a result, the mother began regular screenings, and we were able to detect a sarcoma at an early stage. This case underscores the importance of comprehensive genetic testing beyond common mutations and highlights the critical role of ongoing surveillance in families with a history suggestive of a genetic predisposition to cancer. It has deeply influenced my approach to genetic counseling and the management of patients with a potential CPS, emphasizing the need for thorough family history assessments and personalized care strategies.

In the Spotlights: Meet Professor Frederik Hes

Posted on 22 May 2024

Name: Frederik Hes

City: Brussels, Belgium

Institution: UZ Brussel

Position: Clinical geneticist and head of the department of Medical Genetics

Could you tell us about your academic and/or professional background? Why did you choose this career?

Starting with my PhD on Von Hippel-Lindau disease, I am now in the field of cancer genetics for more than over a quarter of a century. Somehow, it keeps on fascinating me the way that cancer and genetics are intertwined; no matter if it is in clinical genetics, teaching or research. Chronologically, after my PhD at Utrecht University in 2000, I was an oncogeneticist in Leiden until 2019, when I was appointed as Professor in Medical Genetics and Head of the Department of Medical Genetics in UZ Brussel.

Which of the rare genetic tumour risk syndromes (GENTURIS) area of expertise do you represent?

Currently, I represent hereditary breast and ovarian cancer in GENTURIS, but I have a broad interest in the many forms and characteristics of hereditary cancers.

What does a typical day look like for you? Walk us through your day-to-day work.

I think like for the most of us, a vivid combination of clinics, teaching students, research, and training of young colleagues, administrative work, management and meetings. In the spare time, I like to run, cycle and practice some molecular cooking.

How did you become involved in ERN GENTURIS and what do you believe are the benefits to joining?

For patients, as well as their family members with a tumor predisposition, we are striving for the best possible care, whatever their place or background is. Our main goals are to ensure that expertise is within reach for all patients and that knowledgeable healthcare providers agree upon surveillance & treatment.

What do you think is the main benefit of involving patients/patient representatives in ERN GENTURIS?

It is important to hear their voice on how management for cancer predispositions should be organized in their interest. Within these encounters we have to be sensitive of the individual context of patient representatives.

What is your motto or a quote that you live by as a professional and/or individual?

Depending on the context and the situation, I often live by an old Dutch saying, that could be translated as: "enough is more than plenty", which would be comparable with "less is more".

In the Spotlights: Meet Assoc. Prof. Charlotte Kvist Lautrup

Posted on 11 September 2023

Name: Charlotte Kvist Lautrup

City: Aarhus, Denmark

Institution: Aarhus University Hospital

Position: Consultant, Clinical Geneticist, Associate Professor

Could you tell us about your academic and/or professional background? Why did you choose this career?

I am medical doctor with a lifelong interest in genetics; therefore, clinical genetics was an obvious choice for me. My PhD was on familial colorectal cancer, and since then my work has primarily been in the field of hereditary cancer predisposition.

Which of the rare genetic tumour risk syndromes (GENTURIS) area of expertise do you represent?

Hereditary predisposition to colorectal cancer and polyposis and pediatric oncogenetics. I also have a special interest in Li Fraumeni and PTHS.

How did you become involved in ERN GENTURIS and what do you believe are the benefits to joining?

I joined as part of the hospital’s application for membership. I believe that ERN GENTURIS will raise awareness on hereditary cancer predisposition on hospital, national and international level. The joint collaboration will help us acquire better knowledge on both diagnostics and management for these patients.

What challenges does ERN GENTURIS still face?

I am one of the new members, and I believe we need to focus on how new members can become well integrated in the group. There is also a challenge with making time for this valuable work in a busy daily life with clinical work.

Since joining ERN GENTURIS, what have been your goals?

My goal both now and prior to becoming part of ERN GENTURIS is getting better diagnostics and care for patients and families with hereditary cancer predisposition.

What ERN GENTURIS activities do you participate in and which are your favorite?

I have mostly participated in the CPMS meetings, which have been quite valuable. I look forward to participating in relevant working groups. One of my main interests is to ensure that targeted treatments, such as PARPi in BRCA carriers and immunotherapy for Lynch Syndrome, are considered in early stages when these patients are diagnosed with cancer. This could be an issue for GENTURIS to address.

What do you think is the main benefit of involving patients/patient representatives in ERN GENTURIS?

Whether it is research or creating guidelines, it is important that we take into account what matters to those we are trying to help.

In the Spotlights: Meet Assoc. Prof. Lenka Foretova, MD., PhD.

Posted on 7 September 2023

Name: Lenka Foretova

City: Brno, Czech Republic

Institution: Masaryk Memorial Cancer Institute

Position: Head of the Department of Cancer Epidemiology and Genetics

Could you tell us about your academic and/or professional background? Why did you choose this career?

In 1989, while I was working as a pediatrician, my colleague told me about a very interesting specialization, medical genetics. And in 1991, I did a specialization exam. After that, I left with my family and went to Boston, knowing that I would love to learn more about oncogenetics. Through Kathy Schneider, genetic counsellor from Dana Farber Cancer Institute, I met Prof. Frederick Li, Head of the Department of Cancer Epidemiology and Control, and started to work as a volunteer in their molecular genetic lab. Later, I was accepted to work on a project on early detection of breast cancer. I had the opportunity to attend genetic counselling with Kathy Schneider, Prof. Judy Garber and others. In 1997, I returned to Brno and established the genetic department at Masaryk Memorial Cancer Institute.

Which of the rare genetic tumour risk syndromes (GENTURIS) area of expertise do you represent?

We started with genetic testing of BRCA1 and BRCA2 in 1997, and did the analysis for most of the genetic centers in the Czech Republic for some time. So breast and ovarian cancer families are the most frequently seen and cared for, but we also pay very high attention to Lynch syndrome and other even infrequent syndromes. We started to test GAPPS syndrome in 2017 and found that our location, Southern Moravia, is a region of unusually high incidence of GAPPS, and we started to test the promoter region of APC within our pan-cancer panel. We also closely cooperate with specialists for preventive gastrectomy and follow-up care.

What does a typical day look like for you? Walk us through your day-to-day work.

I have genetic counselling sessions every day, laboratory results and final clinical reports controls, seeing patients to discuss results and planning the follow-up. We discuss new patients with other doctors every day. I have collaboration meetings on our research projects within Czech Republic and abroad. For the last two years I have been working, together with my colleagues, on a new book (in Czech) called Hereditary Cancer Diseases in Clinical Practice, which seems to be successful. I attend research boards and regularly teach medical students.

How did you become involved in ERN GENTURIS and what do you believe are the benefits to joining?

I know about ERN GENTURIS from my colleagues in Prague and abroad. I think, through ERN we can learn a lot, but we also can share our long experience in the field of genetics in cancer, and our close cooperation with other specialists within our cancer institute. The cooperation on research projects is important.

What challenges does ERN GENTURIS still face?

I think that there should be more young people involved in the ERN work. There are many tasks, and we need many specialists for this work. We have to work on mechanisms of how to disseminate the results of our work and improve the testing and preventive care elsewhere.

Since joining ERN GENTURIS, what have been your goals?

Our goal is to cooperate with specialists from other countries on the best possible care for patients and their families with cancer predisposition.

What ERN GENTURIS activities do you participate in and which are your favorite?

We were cooperating on the INSPECT study and start to work also on the family registry. We cooperate on the TF2 study on the availability of genetic services within Europe.

What are the key messages you would like to share with others?

With technical advantages and NGS testing, we should be careful how to deal with all the results and implementation in the life of those tested. Not to harm anyone and not to underestimate the adjacent implications.

What do you think is the main benefit of involving patients/patient representatives in ERN GENTURIS?

Having their opinion (from the opposite side) is crucial for us.

What is your motto or a quote you live by as a healthcare professional and/or individual?

Try to move our abilities ahead, get more people involved and make their work pleasant and interesting. In 1997 the movie GATTACA was very futuristic, but now we are almost there technically, and have to be wise and careful. Help people and do not harm.

In the Spotlights: Meet prof. Alessandra Renieri

Posted on 5 July 2023

Name: Alessandra Renieri

City: Siena, Italy

Institution: Azienda Ospedaliero-Universitaria Senese (AOU Senese)

Position: Full Professor/ Director of the Medical Genetics Unit

Tell us about your academic and/or professional background? Why did you choose this career?

I have a MD degree and a PhD in human genetics, with a specialization in medical genetics. I choose this path because I was fascinated by the power of knowledge of genes, not only in the diagnostic laboratory, but also in the therapeutic field.

What challenges does ERN GENTURIS still face?

I believe the biggest challenge is still finding a way to help people with rare disorders.

What are the key messages you would like to share with the others?

There should be alternative way beside guidelines in order to ensure high quality assistance to the patients.

What do you think is the main benefit of involving patients/patient representatives in ERN GENTURIS?

Have the voice from the other side of the coin.

What is your motto or quote in which you live by as professional or/and individual?

Using guidelines for the clinical assistance is like driving while looking in the mirror.

In the Spotlights: Meet prof. Antonis Kattamis

Posted on 8 May 2023

Name: Antonis Kattamis

City: Athens, Greece

Institution: Division of Pediatric Hematology-Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital

Position: Professor of Pediatric Hematology-Oncology, Division Head

Tell us about your academic and/or professional background? Why did you choose this career?

I am a pediatrician, specialized in Pediatric Hematology-Oncology, trained in one of the world’s most prominent programs, at the Children’s Hospital of Philadelphia. I have always loved working with children and adolescents. The field of Pediatric Hematology-Oncology, despite being very challenging, is very fascinating. Trying to do the best and to make a significant impact in the life of these patients and of their families has been the goal of my medical profession.

Which of the rare genetic tumour risk syndromes (GENTURIS) area of expertise do you represent?

The main area of expertise that we represent in GENTURIS is the field of neurocutaneous disorders, especially neurofibromatosis (NF). For the last 10 years, one of our main interests was to organize the Cancer Predisposition Clinic, beginning from the establishment of the multidisciplinary NF Clinic, which was recognized as a Full Member of ERN GENTURIS in 2022.

How did you become involved in ERN GENTURIS and what do you believe are the benefits to joining?

The ERN GENTURIS provides a wide platform to exchange ideas, thoughts, and experiences. Building up collaborative programs aiming at the advancement of science and the well-being of patients are key components of the ERNs. Fostering collaboration is the only means to address rare and complex diseases, such as neurofibromatosis, to improve access to diagnosis and treatment and to ensure the provision of high-quality healthcare for patients all over Europe.

What challenges does ERN GENTURIS still face?

The main challenges derive from the great heterogeneity of the structure and support facilities of the different healthcare providers, which reflect the significant differences between healthcare systems within Europe. This polyphony is one of the greatest advantages, but also weaknesses of this type of collaboration. Another challenge is to communicate the work of ERN GENTURIS at a national level and to better integrate the ERNs to the national healthcare systems.

Since joining ERN GENTURIS, what are your goals in this field?

As one of the few pediatric centers in ERN GENTURIS, we believe we have a lot to offer in attaining the common goals of enhancing scientific knowledge, formulation of guidelines, and of better serving the patients. Pediatric centers can provide substantial information on the clinical course of NF from the early stages of life, which could eventually serve as prognostic markers for long-term clinical course. Finally, organizing educational activities to improve early detection of NF-related manifestations is one of our main goals.

What are the key messages you would like to share with the others?

Working together is the best way to achieve significant tasks. Along with Prof R. Pons, and Drs K. Roka and E. Kokkinou, we established the first multidisciplinary team for NF in Greece, which developed into a center of expertise, and a full member of ERN GENTURIS. We appreciate the Hellenic patients’ organization “Living with NF” support in this joint effort. We feel privileged to participate in this ERN and we encourage other healthcare providers nationally and across Europe to participate.

What is a motto or quote you live by as a professional and individual?

‘No challenge is too big if you have the right team’. It is teamwork that will provide the best care to your patients, the best example to your colleagues, and a balance between professional and private life.

In the Spotlights: Meet Dr. Arvīds Irmejs

Posted on 20 April 2023

Name: Arvīds Irmejs

City: Rīga

Institution: Breast Unit, Pauls Stradins Clinical University Hospital/Institute of Oncology, Rīga Stradiņš University

Position: Consultant in breast surgery/associated professor

Tell us about your academic and/or professional background? Why did you choose this career?

My mother was a nurse in hospital and I became closely familiar with medicine quite early in my life. The influence of my parents and strong Christian roots made the decision to study medicine quite straightforward for me.

Which of the rare genetic tumour risk syndromes (GENTURIS) area of expertise do you represent?

Hereditary breast and ovarian cancer.

What does a typical day look like for you? Walk us through your day-to-day work.

Alarm at 5.45 (if early surgery then 5.30)
Arrival at the hospital 7.50 (if early surgery then 7.20)
Morning meeting of Department of Surgery 8.00
Departure from the hospital around 18.00

Monday mornings: Students/office, afternoon clinic/surgery
Tuesday: Surgeries
Wednesday: Clinic/MDT meeting/office
Thursday: Clinic/MDT meeting/weekly surgery planning for breast unit
Friday: Surgeries
Saturday mornings: 8.00-9.30– discharge of patients

Private praxis: Monday and Thursday 18.00-20.00

How did you become involved in ERN GENTURIS and what do you believe are the benefits to joining?

My cancer genetics professor - Prof. Jan Lubinski from Poland invited me to join in 2019. Benefits are huge for both patients and institutions. Public financing for panel testing was obtained. Annual breast MRI screening was introduced. Complicated cases are discussed in CPMS. Participation in research projects (e.g. SolveRD) contributes to finding of molecular background for unsolved cases – e.g. 23-year-old breast cancer patient with TP53 mosaicism. Inter ERN collaboration – e.g. EURACAN.

What challenges does ERN GENTURIS still face?

In our country the administrative staff for ERN GENTURIS activities are covered only 16 hours per month. It is by far not enough, as physicians alone are not able to keep up with all ERN activities in the long run.

Since joining ERN GENTURIS, what have been your goals in this field?

The ultimate goal is to identify all HBOC risk cases in Latvia pre-symptomatic and to secure early diagnosis or risk reduction.

What ERN GENTURIS activities do you participate in and which are your favorite?

Annual meetings, CPMS, National coordinators’ meetings and development of registry – all of which I enjoy.

What are the key messages you would like to share with the others?

It is a great satisfaction (sounds a bit strange) when I receive screening MRI/pathology report on 5mm asymptomatic breast cancer for BRCA1/2 positive case, which otherwise would be diagnosed with symptomatic malignancy. Similarly, more than 100 risk reductive mastectomies performed in our unit during the last decade have prevented dozens of breast cancer cases and related sufferings. It is worth investing in cancer genetics!

What do you think is the main benefit of involving patients/patient representatives in ERN GENTURIS?

Patient reported outcome measurements (PROMs) are very important for improvement of care. Patients’ voice usually has been heard better than physicians by public health care organizers. A recent example in our country is the provision of public funding for post-mastectomy breast reconstruction in asymptomatic BRCA1/2 carriers.

What is a motto or quote you live by as a professional and individual?

Do not be afraid to do too much good.

In the Spotlights: Meet Dr. Remco van Doorn

Posted on 16 March 2023

Name: Remco van Doorn

City: Leiden

Institution: Leiden University Medical Center

Position: Dermatologist

We are excited to feature an interview with Dr. Remco van Doorn, a dermatologist from Leiden, the Netherlands.

Tell us about your academic and/or professional background? Why did you choose this career?

During my medical studies I developed an interest in tumour genetics and dermatology. While training as a dermatologist I became involved in cutaneous T-cell lymphoma studies and as a postdoc in melanoma research. At Leiden University Medical Center (LUMC) there is a longstanding interest in hereditary melanoma, which is related to the presence of a large population of carriers of a pathogenic CDKN2A gene variant (p16-Leiden founder mutation) in surrounding towns. Academic dermatology permits me time to spend on translational research.

With clinical geneticists Maartje Nielsen and Christi van Asperen at LUMC, we have a particular expertise in the hereditary melanoma, bowel cancer and breast cancer. My area of interest is mostly limited to familial clustering of melanoma due to CDKN2A and BAP1 gene defects.

What does a typical day look like for you? Walk us through your day-to-day work.

Each day is different. On Monday patients at high risk of melanoma are seen during specific consultation hours and subjected to skin examination, total body photography, dermoscopy, sometimes surgical excision and referred for genetic counseling.

There are many meetings in the week, partly related to research and teaching and too many administrative tasks. We contribute to larger research initiatives on familial melanoma, such as genomics studies and guideline development. In addition, we have initiated studies aimed at understanding the consequences of CDKN2A inactivation and senescence induced by activation of this gene on a cellular level. During the week there are pleasant interactions with dermatology residents, in joint clinical problem solving. Management of familial melanoma is multi-disciplinary, involving clinical geneticists, pathologists, oncologists, surgeons, radiologists, ophthalmologists and gastro-enterologists; the atmosphere at LUMC is very collegiate.

One day of the week I work at Antoni van Leeuwenhoek Hospital (Netherlands Cancer Institute), also to support research collaborations.

How did you become involved in ERN GENTURIS and what do you believe are the benefits to joining?

Maartje Nielsen, Christi van Asperen, clinical geneticists at LUMC, and I thought we might benefit, as national centers of expertise, to join a larger European network partly for the exchange of expertise it would allow. In particular for rare diseases, information to base management decisions on is limited; sharing of expertise, combining datasets and conducting joint studies are necessary to advance our understanding and level of care.

What challenges does ERN GENTURIS still face?

The registration of patient data is a laborious task and the medico-legal aspects may be difficult as well. For small patient groups data registration is feasible, whereas for large patient cohorts this could be challenging for centers where research support is limited.

Since joining ERN GENTURIS, what have been your goals in this field?

Specific goals from the perspective of familial melanoma would be to increase our insight into the substantial proportion of families where no genetic cause for melanoma susceptibility has yet been identified. In addition, the surveillance programs should be based on reliable estimates of risk of different tumour types, which is not available for some of the hereditary tumour syndromes. There might also be cancer treatments specifically tailored to hereditary tumour syndrome patients carrying a certain genetic alteration. The Dutch healthcare system is well-organized, and hereditary cancers are a focus area at LUMC. Expectedly for hereditary melanoma, bowel cancer and breast cancer, our group at LUMC can contribute to the GENTURIS network.

What ERN GENTURIS activities do you participate in and which are your favorite?

Practicing as a dermatologist and not a clinical geneticist, some of the educational activities are of less immediate relevance to me. I particularly enjoyed an online presentation on genetic mosaicism. Several skin diseases present in mosaic form and the visual representation of this genetic phenomenon with patterns, for example demarcated by Blaschko’s lines, can be striking.

What are the key messages you would like to share with the others?

If you would have an ambitious research question, do not hesitate to approach and involve us.

What do you think is the main benefit of involving patients/patient representatives in ERN GENTURIS?

Often the patient is most capable of formulating which medical need is the most pressing. It is important to align our activities as a network to those needs.