The Patient Impact of Lab Expertise and Collaboration

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“My advice for clinicians and healthcare providers who are ordering genetic testing is [that they] should feel that they are partners with the lab,” explains Chana Ratner, Genetic Counselor at Hackensack University Medical Center. We were grateful for the opportunity to connect with Chana and to discuss her experience as a clinical genetic counselor. Chana sees patients for various indications, from infancy to adulthood, and helps families who may be struggling to find answers that could impact their well-being and healthcare. She shared, “One of the things I love about being a genetic counselor is helping these families, hopefully finding answers and guiding them through the journey.” In many cases, those answers come from genetic testing.

Chana recounted a couple of recent cases in which Ambry Genetics was able to provide her patients with greater insight via more accurate results than were previously available. Chana told us about a patient who was pregnant and referred to her team because genetic testing through another lab showed a likely pathogenic variant in the TSC2 gene, indicating she has a condition known as Tuberous Sclerosis. This patient was anxious because not only would this diagnosis have implications for her, but it could also be inherited by her children. However, Chana’s genetics team completed a physical examination of the patient, and she did not have any features of this condition. Chana reached out to Ambry Genetics in order to get a second lab’s evaluation of this TSC2 variant. Ambry completed RNA studies, which had not been done by the original lab, and collaborated with that original lab to share their data. With the patient’s clinical history and Ambry’s RNA data, the variant was downgraded to a variant of unknown significance (VUS). A genetic variant is classified as a VUS if there is not enough evidence to confirm it is either pathogenic (harmful) or benign (harmless). Medical decisions should not be made based on identification of a VUS. “So, when Ambry Genetics issued a new report with the reclassification, that was very important for the family. Now they were able to think about future pregnancies and think about family planning in a different way.”

In the second case that Chana shared with us, a family had originally presented five years ago because they had a young child who was diagnosed with a rare brain tumor. The genetic testing completed at that time showed a VUS in the SMARCB1 gene, which is related to brain tumors. Familial testing had shown that the variant was inherited from mom, who was in her 30s and healthy, with no history of brain tumor. This family was seen again recently by Chana because, unfortunately, they had a second child who had the same rare brain tumor. Genetic testing was completed for the second child and again showed the same SMARCB1 VUS. When the VUS was identified in the second child in this family, Ambry requested additional medical records from the first child and on other family members. Chana stated that “Ambry goes above and beyond. When we do genetic testing, they always ask for additional records to get a full picture of what's going on.” By reviewing this additional medical information, Ambry was able to upgrade the SMARCB1 variant from a VUS to a likely pathogenic variant, which is considered a positive result. Chana explained that the family is grateful to have this result because “…they're hopeful […] that they could go through the IVF and family planning route to have healthy children in the future, and that would not have been possible without Ambry’s reclassification.”

Chana summarized her genetic testing experiences with Ambry by saying, “Many health care providers think that one genetic test is the same in all laboratories. In my experience, that's not the case. When we do testing through Ambry Genetics, we've always been so impressed, from start to finish, how the lab is so helpful. […] And hopefully in the future, with all of the testing out there, we could end the genetic odysseys for many families hopefully to come.”

To hear more about Chana’s insights and these cases, check out this video:


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