How I Work: Karlene Coleman

Posted By: Chris Gunter, PhD, Member of the ASHG Communications Committee

We sat down with ASHG member Karlene Coleman, BSN, MSN, CGC, AGN-BC (Advanced Genetics Nurse – Board Certified), to learn more about her work providing genetic counseling, running a specialty clinic, and educating health professionals.

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Karlene Coleman, BSN, MSN, CGC, AGN-BC (courtesy Ms. Coleman)

ASHG: Tell us about your position and how it fits into your institution and its goals.

Karlene: My position has two main parts: the first is that I follow up on and provide genetic counseling for genetic testing ordered through the Marcus Autism Center, which is the largest clinical center for autism care in the U.S. Second, I created a specialty clinic for 22q11.2 deletion back in 2006, and we have now seen over 700 families. I also give lectures in multiple training programs at Emory, including the Schools of Medicine and Nursing.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Karlene: I am a member of ASHG and the American College of Medical Genetics (ACMG), so I attend the annual meetings for both and read many journal articles from each. I also get GenomeWeb alerts. In addition, I am a member of the International Society of Nurses in Genetics (ISONG), and use their newsletters and webinars.

ASHG: What are your favorite genetics websites?

Karlene: Of course I use OMIM, GeneReviews, and Genetics Home Reference at NIH regularly. I also use a new site called ThinkGenetic, developed by a colleague at Emory, which is to help educate families and guide them through symptoms to come up with questions for their doctors or to self-diagnose genetic conditions.

ASHG: What are you currently reading/thinking about?

Karlene: We are using developmental questionnaires in our 22q clinic to identify the needs of the children over time, and we just submitted an abstract to ASHG 2017 looking at the reliability of these measures.

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Karlene: Serving as a resource for people all over the region on what to do and where to refer when they need to help specific patients. I just got a call yesterday from one of our physician liaisons after I had given them a lecture several weeks ago, and they are already calling to make referrals. It’s great!

Karlene Coleman, BSN, MSN, CGC, AGN-BC, is a Clinical Nurse Coordinator at the Marcus Autism Center at Children’s Healthcare of Atlanta. She has been a member of ASHG for over 20 years.

How I Work: Brian Shirts

Posted By: Elisabeth Rosenthal, PhD, Member of the ASHG Communications Committee

We sat down with ASHG member Brian Shirts, MD, PhD, to learn more about his work at the cutting edge of clinical genetic diagnostics, including how his work intersects with his faith.

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Brian Shirts, MD, PhD. (courtesy Dr. Shirts)

ASHG: Tell us about your position and how it fits into your institution and its goals.

Brian: I am Assistant Professor of Laboratory Medicine at the University of Washington. Being in a clinical department means part of my job is doing clinical genetic testing in patients. Since I am at a university, the other part of my job is teaching and doing research. In order to have this position, I did medical school and doctoral training in human genetics. Then I did specialty training to be board certified in Clinical Pathology and Molecular Genetic Pathology. When I started graduate training, I did not know that the position I currently have existed. When I first met a physician who specialized in genetic diagnosis, I quickly realized, “That is what I wanted to do all along!”

Working at a university, I need to be on the cutting edge of clinical genetic diagnostics. I specialize in hereditary cancer testing and understanding the health effects of extremely rare genetic variants. When I say “extremely rare”, I mean genetic variants that I may see for the first time when I look at the results of a patient receiving clinical genetic testing, or a variant that may have only been seen in one or two other people in the world. In cancer risk genes, these variants are usually inherited and clustered in families, so I like to call them family-specific variants.

I am lucky because my research interests and my clinical work go well together. I spend over half of my time doing research and developing translational applications that will allow myself and others to apply my research discoveries to clinical diagnostics.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Brian: I try to attend the ASHG Annual Meeting and the Association for Molecular Pathology meeting as often as I can, as I think these are the best forums for the latest in genetics science and genetic diagnostics, respectively. I also read several journals and go to journal club presentations as often as I can.

ASHG: What are your favorite genetics websites?

Brian: I have to give a plug for my website on family studies for rare variant classification: findmyvariant.org. Some of my other favorite genetics websites for non-geneticists are: Genetics Home ReferenceLearn.Geneticsmy46, and Genetic Alliance.

ASHG: What are you currently reading/thinking about?

Brian: I am always thinking about how to apply population genetics principles to clinical diagnostics. For something completely different, I like to read the best books that my kids are reading. I am currently reading “Mr. and Mrs. Bunny–Detectives Extraordinaire!” by Polly Horvath.

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Brian: When I go to church, others tell me that I have an extraordinary talent for asking appropriate yet thought provoking questions during Sunday School. Being an outspoken scientist in a faith community can be difficult to navigate, but communicating with people from different backgrounds is a really important skill to develop.

Brian Shirts, MD, PhD, is Assistant Professor of Laboratory Medicine at the University of Washington. He has been a member of ASHG since 2004.

How I Work: Kathryn Garber

Posted by: Staff

We sat down with ASHG member Kathryn (Kate) Garber, PhD, to learn more about her unusual, three-part job and how she keeps up with it all (hint: superpowers are involved).

ASHG: Tell us about your position and how it fits into your institution and its goals.

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Kathryn (Kate) Garber, PhD. (courtesy Dr. Garber)

Kate: I have three main pieces to my job: teaching, working in a clinical genetic testing lab, and writing for The American Journal of Human Genetics (AJHG). The typical tenure-track academic job wasn’t right for me, but I love academia, and I’ve managed to evolve my job into something that suits me and that fills a niche in our department. Emory has a medical school and training programs for physician assistants and genetic counselors, and all of these students are required to learn human genetics during their training. I have been involved in the design and implementation of each of these programs, and I teach in all three every semester. As I’ve gained more experience, I’ve also been involved in oversight of the medical school program, which has been a great learning opportunity for me.

In the clinical genetic testing lab, I am a variant analyst, which means that I classify DNA sequence variation as being pathogenic (disease-causing) or not before it is reported back to the ordering physician and patient. I also respond to clients who have questions about a variant classification and regularly discuss our classifications with other testing laboratories to help ensure consistency between labs. This job involves a lot of computer work and reading, and I’m constantly learning about new genes and new conditions. To me, it feels like solving puzzles, and I find it very interesting.

Finally, I write a monthly column called “This Month in Genetics” for AJHG. I scan the literature each month to find articles that I think will be of interest to the human genetics community, and then I write a short summary for each. Although sometimes it feels like the deadlines come faster and faster, I can’t think of a better opportunity to stay widely-read and to work on my writing skills. Some of my favorite days are spent scanning tables of contents looking for papers that catch my eye. Although translating that excitement into a few short sentences can be tricky, it is great practice for me in delivering complex information succinctly.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Kate: My work with AJHG really helps with that! But I also use GenomeWeb to monitor what’s going on. Attending seminars on a wide variety of topics is also something I find valuable, particularly for keeping up with techniques.

ASHG: What are your favorite genetics websites?

Kate: OMIM (Online Mendelian Inheritance in Man) and GeneReviews. Both are go-to websites for me on a daily basis. OMIM does such a great job summarizing the literature on disease genes and is a quick reference for inheritance patterns and to find the phenotype associated with a gene. GeneReviews is a great place to find overviews written by experts that summarize clinically relevant information for a variety of genetic conditions. Both are extremely valuable sources of information for the work that I do.

ASHG: What are you currently reading/thinking about?

Kate: Chromatin domains and other higher order ways to control genes. And because of some of my classes, I’ve been thinking a lot about the latest and greatest treatment strategies for genetic disease, such as RNA-based therapies and gene therapy.

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An example of Kate’s PowerPoint pedigrees. (courtesy Dr. Garber)

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Kate: It’s not a broadly applicable skill, but useful for a geneticist: drawing pedigrees in PowerPoint.

Kathryn (Kate) Garber, PhD, is an Associate Professor at Emory University and Chair of the ASHG Communications Committee. She has been a member of ASHG since 2007.