Genetic Testing Challenges
A case series in partnership with My Gene Counsel to highlight the challenges genetics professionals and oncologists are grappling with as genetic testing is increasingly used in patient care. If you would like to submit a case report, please email [email protected].
These cases are aggregated and used to support a series of articles published in peer-reviewed journals, viewable here. Clinicians who submit cases that are used in published articles have the option of submitting under their name/institution or remaining anonymous.
Genetic Testing Challenges in Precision Medicine: Delayed Cascade Testing Due to Unclear Counseling
A patient found to carry a BRCA1 pathogenic variant is not referred to a certified genetic counselor in her health system.
Genetic Testing Challenges in Precision Medicine: Ataxia Patient Tested for Cardiomyopathy Genes
A neurologist orders the wrong genetic test for a patient experiencing peripheral neuropathy and doesn't realize it even upon seeing the report.
Genetic Testing Challenges in Precision Medicine: Li-Fraumeni Diagnosis Missed in Young Patient
A 31-year-old woman with stage IV breast cancer learns a test ordered more than a year before her diagnosis detected a TP53 mutation but she wasn't told.
Genetic Testing Challenges in Precision Medicine: Parents' Tragedy After Wrong Tay-Sachs Test Order
A physician orders targeted HEXA sequencing when full sequencing is warranted during a high-risk couple's preconception screening, leading to dire consequences.
Genetic Testing Challenges in Oncology: Lynch Syndrome Variant in Patient Lacking Family History
An unexpected, deleterious MSH6 variant was found in a patient seeking preimplantation genetic testing due to relatives with cancer and a familial BRCA2 variant.