Genetic Counseling Strategies for Patients With a Germline Variant Downgraded to Uncertain Significance, Likely Benign or Benign Following Risk-Reducing Surgery

Yi Liu, Grace-Ann Fasaye, Chimene Kesserwan, Kathleen Calzone

Genetic variant interpretation is an evolving process dependent on the collective evidence at that moment of time. Also, it is based on the pipeline and expertise used in each laboratory despite the adoption of ACMG guidelines for sequence variant interpretation and centralized resources such as ClinVar. Thus, there is discordance in variant interpretation between laboratories. Health providers (HP) are challenged when counseling patients post risk-reducing surgery with a genetic variant downgraded from likely pathogenic to variant uncertain significance, benign or likely benign. HP’s main goal for genetic counseling is to help the patient understand and adapt to the medical, psychological and family implications of the downgraded genetic variant contributing to disease and disease risk. Two counseling models can be effectively used in these difficult sessions. One is the psycho-educational model, which uses education and psychological counseling to facilitate the patient’s ability to adapt to the updated genetic information to minimize the psychological distress and increase the personal control. The second is the reciprocal engagement model which uses the genetic information as the mechanism to open up the conversation, build a relationship, support autonomy, believe patient’s resiliency, and promote shared decision-making. Tangible steps to integrate in a session are: communicate the genetic information instead of didactic teaching; assess patient’s understanding of the updated variant classification; identify the patient’s main concern based on the re-classified variant, identify the original motive for the risk-reducing surgery (patients have their own story, which comprises his/her culture background, beliefs and values); re-check understanding periodically and solicit questions they have; use language that the patient understands; develop a helping relationship by exploring their perspective; promote patient autonomy and shared decision making by applying respect, genuineness, and empathy counseling skills. In conclusion, a psycho-educational and patient engaged counseling method will be useful for a health provider to utilize in a challenging downgraded genetic variant session.

PI: Kathy Calzone