Genetic counseling at Illumina

All opinions of the interviewer are my own and do not necessarily reflect those of Novo Nordisk.

Illumina is the industry leader in high-throughput sequencing platforms and over the past decade has employed a fascinating mix of innovation, creativity in approach, community engagement and aggressive exploration into different business areas. I recently had the opportunity to interview Erica Ramos, who works as a clinical genomics specialist and certified genetic counselor in the professional services group within Illumina’s CLIA lab, about Illumina and genetic counseling.

Kyle Serikawa:  Can you describe what Illumina is doing in the field of genetic counseling? That is, are you creating a genetic counseling service, or advocating an increase in training of genetic counselors, or creating materials to facilitate counseling?

Erica Ramos: So Illumina has four full time genetic counselors as part of their services group. We don’t provide direct services to patients; Illumina’s model is to provide support to the providers, the physicians. We support what’s being done in the genetics core at Illumina. As for training, we offer opportunities for that. Every year we welcome a second year student in genetic counseling for a 10 week, part time rotation. We’ve done about 5 of those so far. It’s an opportunity for those students to see how genetic counseling skills can be applied to a non-clinical setting. We see the internships as a way to engage these people who will go on to become genetic counselors. Illumina is also a very active in the genetics community, including membership in the American College of Medical Genetics and other organizations.

KS: Given the current landscape of, for example, exome and whole-genome sequencing, it seems like genetic literacy will become an increasingly important skill—both for understanding how genetic variants can be interpreted and also how genetic information will be communicated. How is Illumina thinking about educational needs in genetics?

ER: The genetics community as a whole is concerned about the need for wider understanding of genetics to help inform medical practice. From Illumina’s standpoint, one of the things we can do is to support the internships I’ve described as a way to provide exposure to non-clinical roles for genetic counselors, which broadens the potential market. Also, we’re providing a training option that maybe not all academic programs can support. At the same time, the universities themselves can see the developing need, and through supply and demand we hope to see an increase in the number of genetic counselors being trained.

There is also need for the education and updating of other professions. Physicians, nurse practitioners and others. Illumina has put on the “Understand Your Genome” symposia to work with providers who don’t currently have as deep an understanding as they would like.

KS: How do you see genetic counseling as synergizing with Illumina’s business interests?

ER: Illumina is very interested in genomes being available in the clinical space. It’s an extremely powerful technology. At the same time, we want to make sure that genome information is used in a way that is helpful. This is why we’re focused on things like our training programs, to help make this information useful.

KS: There has been a great increase in interest about the genetic underpinnings of disease and wellness, in no small part because of the technological advances Illumina has been a part of. What do you see as the key ways in which genetic information is helping human health? How do you think genetic information will be used most effectively in the future?

ER: If we look at the landscape now, what are being reported are what you can think of as “poster child” cases; situations where genome sequencing has led to an understanding of the cause of a previously mysterious illness or disease. These are very important as they provide a concrete example of the benefits of learning genomic information. It’s an interesting time. We’re seeing more and more of these “poster children” and it’s very clear that even though often an understanding of the genetic basis doesn’t immediately suggest a cure or treatment, there is nevertheless a real benefit for the diagnosis, and that can’t be undervalued.

Eventually we expect to see value more broadly. Historically for genetics, the way medical incorporation of genetic information and technologies has gone is, an initial round in which the application is primarily to the affected patients, whom are helped. Once we learn about the genes and variants that are important, however, that information can be used to create tests to screen for carrier status. The same thing will, hopefully, happen with genome scale information. At first the community will focus on specific diseases, and over time the benefits and knowledge will spread out and applications will grow.

KS: It’s clear that with the advances in our understanding of genetics and genomics over the past decade that better knowledge and communication of genetic results will be needed in medical practice. How do you see genetic counselors fitting in to the practice of medicine? Do you feel continuing medical education needs to do more in the area of training physicians?

ER: Medical schools are coming to that realization. We’re seeing many medical schools becoming very innovative. Mt. Sinai has started integrating sequencing and genomics into their regular practice of diagnosis and treating of patients. Schools are also creating interactive programs that try to engage patients differently, given a greater understanding of their genomes.

KS: What methods do you see as becoming most useful in the practice of genetic counseling moving forward? As more people get their genome sequenced or at least genotyped, how can nuances best be communicated to people?

ER: One of the things that’s been a focus of thinking is the delivery of genetic counseling services. For example, does that have to be face-to-face? Can that be via video? Or will a phone call suffice? How can we address individuals who live in remote areas?

KS: Yes, that seems to be a thread across a lot of healthcare discussion today—the digital divide, how mobile health may alleviate some of the discrepancies of service in rural areas, and also what are the optimal, as opposed to high-tech, solutions. Being from Seattle, I often immediately think that high-tech is the way to go, but you provide a good reminder that what’s important is what actually gets the job done, and that might be as simple as a phone call.

ER: Exactly. Another thing that’s helping is to have specialization within genetic counseling. For example, we might have a group of cardiovascular specialists, and with the internet and the ability to connect people remotely, those specialists can be called in to talk to specific patients about specific findings that are important for cardiovascular health. In this way, even with a limited number of counselors, the impact can be greater. We have to think about alternative models.

KS: What does Illumina think about the process of consent for genomic studies? For example, is Illumina in favor of portable consents? What is Illumina’s position on the Genetic Information Non-Discrimination Act?

ER:  Particularly in clinical services, we are very aware of consenting patients. It’s absolutely a part of our requirements that informed consent be obtained and we’re very proud of that. We do our services via physicians, not patients, and so when communicating with the health care provider we offer advice, templates, and standard practices to them if they need it, to ensure things are done correctly for patient consent.

With respect to using data, we are conscientious about protecting personal health information. We have an external ethics advisory board with whom we discuss uses of data, what consents allow for data use, and where to draw the line between acceptable and unacceptable uses.

With respect to GINA and other legislation, Illumina believes very strongly that access to genetic and genomic testing is of public importance, and that it’s important to have safeguards in place to ensure this can continue.

KS: Thank you very much for your time. Is there anything you’d like to add about genetic counseling and Illumina?

ER:  I think generally Illumina has been a good, integrated place for genetic counseling. It’s allowed genetic counselors such as myself to take on roles that are a little different from the norm. It takes the people, interactive, explanatory and analytical skills we are trained in and lets us move those skills into the lab and the business environment. I think this has been a benefit both for us and the larger community.

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