TDC member Julie Jurgens interviews Gorka Alkorta-Aranburu, PhD, Trainee Representative to the ASHG Board of Directors.
ASHG: Tell us about yourself.
Dr. Alkorta-Aranburu: I received my Bachelor’s degree in Biochemistry and Molecular Biology at the University of the Basque Country in Bilbao, Spain, where I was first introduced to genetics. As my ultimate goal is to conduct research leading to the diagnosis and identification of genes of inherited disease, I have been training in the United States spanning MIT and the University of Chicago working with Drs. Housman, Di Rienzo, Ober, Pinto, Del Gaudio, Waggoner, and Das since 2003. With the support of Dr. San Miguel from the University of Navarra in Pamplona in Spain, I plan on returning home as a junior investigator to fulfill my goal of establishing a diagnostic group with the most up-to-date technologies.
ASHG: How did you first get interested in genetics?
Dr. Alkorta-Aranburu: I was aware that Huntington’s disease (HD) had a very high incidence in my hometown, and that everybody was related. When I asked how we know who will manifest the phenotype, I was told, “Genetics can tell us.” Though genetics initially seemed very abstract, I applied for an undergraduate position to study genetics of the local honeybee with the encouragement of my college professor, Dr. Estonba. This was in June 2000, when the first draft sequence of the human genome was finished and just before I took a course in Human Genetics with Dr. Zubiaga. At the time, the answer seemed simple to me: “Nice. We just need to know where the wrong letter is in people who have the disease but not the rest of us. Where can I learn how to do that?”
ASHG: Which trends in genetics do you find most exciting?
Dr. Alkorta-Aranburu: I think most of us in clinical diagnostics are very excited and hopeful about next-generation sequencing (NGS). I find it fascinating that we can sequence cell-free DNA with NGS, allowing non-invasive fetal DNA testing as well as liquid biopsies, which are non-invasive blood tests that can, for instance, detect circulating tumor DNA long before the manifestation of cancer.
ASHG: Can you describe your experience on the ASHG Board of Directors?
Dr. Alkorta-Aranburu: Until recently, there were no trainee members on the Board; most members were further along in their careers. In 2014, the board began accepting applications for one trainee member who could help address the unique concerns of the trainee community. This was the year that I transitioned from research to the clinic and had begun following clinical genetics more closely. While I enjoyed attending clinically-focused meetings, I missed hearing about the cutting-edge technology and basic research highlighted by ASHG. I wanted to bring more of a clinical focus to ASHG, and it just so happened that my interests and experiences aligned with what the Board was looking for at the time.
Each member of the Board serves a three-year term. We meet twice a year in person and have regular phone calls throughout the year. The Board works extensively with ASHG staff members to coordinate various issues relating to the society; for instance, we just recently approved the budget for 2016. My responsibilities are the same as the rest of the Board, but I try to emphasize the trainee perspective.
Ad-hoc committees made up of a subset of Board members are created to handle special issues, such as developing training programs for non-geneticists or informing the international community about genetics in America. We are currently preparing to launch ASHG’s first Virtual Meeting, a free event discussing the latest issues in clinical genetics, which will be held on March 22, 2016. Since the Virtual Meeting will be hosted online, it is designed to allow participants from around the world to attend. We are excited to pilot a 45-minute co-language session at this meeting, in which the same content will be presented concurrently in English and Spanish by Drs. Heidi Rehm and Carlos Bacino.
The relevance of the Virtual Meeting to clinicians is clear, but there are also benefits for non-clinicians, such as seeing how their research is implemented in the clinic or getting a sense of the kinds of tools that would be useful in the clinic. We hope that the Virtual Meeting will spark a connection between researchers and clinicians and highlight new areas where translational research is needed.
Early career human geneticists have more access to technologies, research, and clinical publications than ever before, but we are having difficulties developing independent careers for several reasons. Funding has significantly limited access to training and meeting opportunities, which reduces our exposure to cutting-edge science and ability to develop networks with other scientists. Since these opportunities are key to establishing an independent career in human genetics, one of my goals and responsibilities is to ensure that as many trainees are able to take advantage of these resources as possible.
I am also part of the international science community, which has an extra layer of difficulties. Visa-related complications have caused many international ASHG members to return home without finishing their training or development as independent researchers. The recent partnership between ASHG and ESHG is a good start to adding support for international trainees, and I would like to continue in this direction. I think that diversity in genetics and how much people care about bridging it is one of the best parts of being on the Board.
Even though my fellow Board members are well known, I’ve been struck by how personable and easygoing they are. They’re really just people like us. Each member has a different background and opinion, but things work better because of that. My time on the Board has been pleasant and rewarding, and I don’t think I could’ve gotten this experience anywhere else.
ASHG: What are your hobbies outside the lab and ASHG?
Dr. Alkorta-Aranburu: In the fall of 2008, my parents and sister were planning to come to the states for the first time. The Chicago marathon was in October, and my father was about to complete his 40th marathon. I asked my wife, Maitane, “Can you imagine how much it would mean for my father to run the Chicago marathon with 40,000 other runners?” Her answer was sharp and quick: “Not as much as if one of them was his son!” The marathon was sold out, but everybody from MIT to UofC raised money. After “some” training, we both crossed the finish line. It was painful but very rewarding. I was a competitive swimmer in high school and college, so swimming has been my thing during the cold Chicago winters, but summer running has become my new main hobby. I ran the Chicago marathon six times until our daughter, Amets, was born in 2013. She became our hobby and just two months ago, Maitane and I welcomed our son, Adur. Thus, not much swimming or running lately!
ASHG: Any advice for trainees?
Dr. Alkorta-Aranburu: Even if you aren’t currently called a geneticist, that doesn’t mean you can’t be one. We need to realize how diverse human genetics is becoming in terms of the research being done as well as the types of questions being asked, so everyone should feel welcome and embrace their differences as strengths so we can solve problems as effectively as possible. The recent increase in computer programmers in human genetics is a perfect example of how we can combine different areas of expertise and improve our field. There’s potentially nobody else like you, so you can provide unique perspectives and combine your previous experiences and skills with genetics. Never feel that you’re less than others because you’re different. We need the outliers.
We don’t always realize how much trainees do for ASHG. The Board’s on top, but it’s supported by many people, including ASHG staff and trainee representatives on other committees, who provide a lot of input into final decisions that impact us. I’d recommend getting involved in these committees to learn more about ASHG and help trainees be heard. Try finding a committee that represents your passions and interests, because that’s where you can make the biggest difference. Also know that ASHG is constantly reshaping itself based on its members. We want to highlight trainees and get to know them, so everyone should tell ASHG what they think.
Finally, don’t give up! As trainees, we are sometimes faced with hard choices. We don’t always have the traditional backgrounds of others in our field or the capacity to stay on a certain track due to our circumstances, but we still have something to say that could make a difference.
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