Clinical challenges in interpreting multiple pathogenic mutations in single patients.
Christa SlaughtElizabeth G BerryLindsay BacikAlison H SkaletGeorge AnadiotisTherese TuohySancy A LeachmanPublished in: Hereditary cancer in clinical practice (2021)
Ongoing investigation is needed to improve our understanding of inherited susceptibility to disease in general and cancer predisposition syndromes, as this information has the potential to lead to the development of more precise and patient-specific counseling and surveillance strategies. The real-world adoption of new or improved technologies into clinical practice frequently requires medical decision-making in the absence of established understanding of gene-gene interactions. In the meantime, practitioners must be prepared to apply a rationale based on currently available knowledge to clinical decision-making. Current practice is evolving to rely heavily on clinical concordance with personal and family history in making specific therapeutic decisions.
Keyphrases
- healthcare
- clinical practice
- primary care
- decision making
- end stage renal disease
- public health
- copy number
- ejection fraction
- chronic kidney disease
- newly diagnosed
- papillary thyroid
- peritoneal dialysis
- gene expression
- risk assessment
- electronic health record
- patient reported outcomes
- human immunodeficiency virus
- genome wide identification
- human health
- antiretroviral therapy