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ACMG 2018 – “There is Still So Much We Have to Learn”

This year’s ACMG conference in Charlotte, North Carolina, included a very well received first installment of TED-style talks which reflected on the evolution and impact of healthcare. All three talks delivered by Kaylene Ready (Director of Inherited Cancer and a Genetics Counselor, Counsyl), Christian Schaaf (Professor Clinical Genomics, University of Cologne), and Wendy Chung (Associate Professor of Pediatrics, Columbia University Irving Medical Center) were inspirational, and were considered a great addition to ACMG 2018. Takeaways and key messages included: “treat every patient like patient No. 1, always keeping them at the center of the work, and us working as mediators rather than as a barrier”. Image credit: @DeniseCalvert13

Some statistical numbers were eye-opening and challenging as it comes as no surprise that the community currently lacks genetic counselors (GCs), with fewer than 4,000 GCs and 2,000s medical geneticists in the US which translates to one geneticist per ~60,000 people. With new genetic tests generated every day, GCs need to take on the role of mediators. New operational solutions were discussed to address this shortcoming, and as such Kaylene Ready proposed the exploration of chatbots as alternatives to GC service delivery. While certainly an interesting suggestion, we will have to see whether the field with its customers (i.e. patients) is ready to discuss challenging genetics findings with a computer. As a result, it was suggested to decouple genetic testing from genetic counseling with the aim to provide genetic counseling to those most in need of help with adaptation, coping, decision conflict, grief, understanding of complex results, family communication, and screening.

Some interesting quotes worth highlighting:

  • Christian Schaaf: “Even in 2018, with exomes, genomes, and new technologies, we have 50% of the patients that walk into a clinic leave without a diagnosis.”
  • Wendy Chung:
    • “There is still so much we have to learn.”
    • “We still have ways to go with interpretation.”
    • “Cloud-based collaborations can help with patient data sharing, collaboration, analysis consistency, improved quality, improved turn-around time, and decreased costs.”
  • Heidi Rehm (Broad Institute): “You can’t have a pathogenic variant in a gene that has not been associated with a disease yet. Before variant classification, evidence is needed for the gene-to-disease association.”
  • Les Biesecker (NIH): “The pathogenicity of a variant equals the likelihood that the variant is pathogenic, but it is not equivalent to the correctness of the diagnosis of the patient. Rather, subsequent lab assessment of pathogenicity is needed.”
  • Kayla Hamilton (St. Jude Children’s Research Hospital): “10% of children with cancer had germline pathogenic variants identified on WES/WGS in multiple genes including one child with BRCA2. Family history was significant in hindsight.”
  • Cheryl Reid (Aetna Better Health of New Jersey): “Insurers don’t buy genetic exceptionalism. We should have good evidence that tests are accurate and reliable. They want medical actions and they prefer tests with higher positive rates.”
  • Steve Lincoln (Invitae): “9% of pathogenic variants are technically challenging to sequence, which affects test validation and sensitivity. It is a big problem to find positive controls for validation. Synthetic variant controls may be the answer.”
  • Carlos Prada (Cincinnati Children’s):
    • “There is an alarming lack of clinical geneticists in the developing world – 1 per million people in Dominican Republic and Colombia – telemedicine consultations paired with local clinicians may be the answer.”
    • “Telegenetics to foreign countries achieved a diagnosis in ~64% of cases and changed management in ~50%; routine care established in ~20%.”

Following is a review of the different announcements that coincided with the conference spanning commercial product launches, new partnerships and collaborations, product integrations, and other interesting and relevant topics.

Genetic testing / precision medicine

Strategic partnerships and collaborations

Product launches


Brigitte Ganter


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