Course : TED-Style Talks

TED-Style Talks
Held during the 2018 ACMG Annual Clinical Genetics Meeting in Charlotte, North Carolina                                                              Click Launch for details.



Are We Barriers or Necessary Mediators?
There are fewer than 4000 genetic counselors and fewer than 2000 geneticists in the United States. A recent analysis suggests there won’t be enough genetic counselors to serve the population until 2024. Meanwhile, the availability and promise of genetic testing have grown exponentially. How do we as a profession bring these two opposing trends together? A genetic counselor, Myra Roche said it best in a 2012 publication in Genetics in Medicine: “we are already talking as fast as we can.”
“Traditional” models of face-to-face counseling, which bring patients into clinic for pre- and post-test visits, are still common among many genetics providers. While this model has been followed for decades, there is limited information on the benefits. One study showed that women who underwent genetic counseling for BRCA1 and BRCA2 with a genetic counselor had increased knowledge compared to women who did not have counseling. But how important is it for women who test negative to be able to tell us six months later that hereditary breast and ovarian cancer is an autosomal dominant condition? Shouldn’t we instead be concerned with whether those women are following appropriate management guidelines? Nonetheless, some health plans require pre-test genetic counseling by a certified genetic counselor, independent of the laboratory where testing may be sent. Given that many other healthcare providers have limited genetics education and to address concerns over conflict of interest, perhaps this model makes sense. But what if all health plans had this requirement? Even if it’s the best model, the shortage of genetics providers makes it untenable.
Concurrently, many alternative service delivery models are being investigated. These range from direct-to-consumer models; genetic counselor extenders, where genetic counselors serve as educators and leaders for other clinicians who are trained to provide genetic counseling and testing; interactive computer programs; educational videos; and even online results delivery. In speaking with colleagues, following professional society list serves and even in my own ACMG oral presentation in 2016, it’s clear that some of these models make us a little uncomfortable. Who will take the family history? What about informed consent? What about VUS results? These are important questions, but they shouldn’t stop us from working with our clinician colleagues to find new and effective ways to provide services. It’s time to feel a little uncomfortable. If we don’t start asking ourselves whether we are barriers or necessary mediators to genetic testing, somebody else will and we might not like the answer.

The Power of Patient No. 1
Ever underestimate the power and impact a single patient may have. In this time of genome-wide genetic testing, new disease gene discoveries are possible at unprecedented pace. A single patient may change our careers forever. As clinicians, we should treat each patient with the curiosity and thoroughness that he/she deserves. When successful, this will be a win-win situation for both patient and clinician. We can have a lasting impact on their lives, but also on our own career. This TED-style presentation will highlight new disease gene discoveries, how they have affected patient families' lives, how they have brought communities together, and how they are driving basic research projects, which, in turn, will lead to further discoveries down the line.

The Hype, the Hope, and the Reality of the Future of Genomic Medicine
With the decreasing cost of sequencing and increasing amounts of clinical data, we are increasingly using genomics in both research and clinical care. With advances in our understanding the genome, there are greater opportunities to use genomic information in clinical care. This TED-style talk will be a horizon scanning look toward the future of scaling genomic medicine, discussing the gaps in our knowledge necessary to identify and understand novel genetic disorders and the opportunities to use novel strategies to engage and partner with patients/participants in research and clinical implementation powered by more effective use of electronic medical records and diverse data streams including wearable devices and patient reported symptoms. The talk will also highlight critical barriers to clinical implementation and the role of genetic professionals to facilitate responsible, effective, and efficient use of medical genomics.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems
• Laboratory directors and technicians who conduct genetic testing
• Researchers involved in the discovery of genetic disorders and treatments
• Medical students, undergraduate and graduate students of the biomedical sciences, and genetic counseling students.
• Healthcare and public health professionals who have an in interest in medical and clinical genetics and genomics, delivery of genetics services, or implementation of genomic medicine in the health care system.

Educational Credits:

Date of Release: April 16, 2018
Expiration Date: April 15, 2020 (CME, General CEU's, P.A.C.E.®)
Estimate Time of Completion:1 hour
Course must be completed by the expiration date

Course Information Please Click Here

Registration and Fees:

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

Students and Trainees Please contact for complimentary access


At the conclusion of this course, participants should be able to:

1. Examine the current state of access to genetic testing and counseling.
2. Assess the value of alternative service delivery models.
3. Illustrate how disease gene discoveries have a positive impact on patients and their families.
4. Develop your own strategies for disease gene discovery in your clinic.
5. Illustrate the clinical situations in which genomics can significantly impact clinical care.
6. Identify the barriers that prevent more widespread, appropriate use of genomics in clinical care.
7. Develop solutions, including research agendas and partnership with payers and data systems, to address the gaps in knowledge and barriers to adoptive and effective use of genomics.

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