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.

A Genetic Counselor’s Perspective of ACMG 2017

Posted by Karen Hanson, MS, MBA, CGC, Health Professional Education Programs Manager at ASHG

Last month, I had the opportunity to attend the American College of Medical Genetics and Genomics (ACMG) 2017 Annual Meeting. As a genetic counselor working on health professional education at ASHG, one theme stood out to me: the rapid integration of whole genome/exome sequencing (WGS/WES) into clinical practice.

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Karen Hanson (right) and Director of Education Michael Dougherty, at the ASHG booth in the ACMG Exhibit Hall.

Apparently, we are sequencing everyone – sick people, healthy people, adults, children, babies, and fetuses. The inspiring talk by William Gahl, MD, PhD, NHGRI, NIH about the work of the Undiagnosed Diseases Network (UDN) reminded us all of why we (researchers, clinicians, laboratorians) entered this field. This session showcased what could be thought of as the most traditional use of WGS/WES in the clinic: using advances in genomic sequencing to improve diagnostic outcomes in patients with suspected genetic disease. It’s now less likely that patients and families will struggle without a diagnosis for years.

Infants born with congenital anomalies or metabolic disease are also benefiting from rapid sequencing technologies that allow their physicians and families to quickly treat and manage them. And it’s not just ‘sick’ babies that are being offered sequencing. Several clinical trials are looking at the efficacy and outcomes of sequencing ‘healthy’ newborns. For years, the genetics community has talked about when the day would come that all newborns have a ‘genetic’ barcode (consider that the movie Gattaca turns 20 this year!). Newborn screening programs have already expanded to include dozens of carefully selected disorders, and WES almost seems like a logical next step. However, in at least in one clinical trial, the majority of parents of healthy newborns who were offered WES declined testing. So maybe we are not quite ready yet.

Another session was devoted to genomic sequencing in ‘healthy’ adults. The current scientific atmosphere certainly seems right for this, when you consider the advances in sequencing technology, the rapid growth of variant databases, and the push for personalized medicine. It did occur to me that we haven’t really worked out the ethical and logistics dilemmas we encounter through WGS/WES of ‘unhealthy’ individuals. However, to paraphrase Les Biesecker, MD, FACMG, NHGRI, genome sequencing is here and it’s not going away. The dilemmas associated with sequencing ‘healthy’ people are not new – variant classification, not enough genetic professionals, health provider education, and access to diverse and underserved populations. But overall, the intention is good – to use genomic technology to improve health and patient care. Which for me begs at least one question: who’s going to manage all these ‘patients’? After all, we will all be ‘patients’ after we get our WGS test results.

So, as a genetic counselor working on health professional education at ASHG, I think of all this as job security. My job – our job as geneticists – is cut out for us. We need to educate our medical workforce and all the rest of the ‘patients’ out there about genomic medicine. And who better to do it then those of us who have been and still are in the trenches.

Karen Hanson, MS, MBA, CGC, is Health Professional Education Programs Manager at ASHG. Read more about ASHG’s educational programs for health professionals.