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Most thoracic cancers arise via a series of stepwise somatic alterations driven by a well-defined carcinogen (ie, tobacco or asbestos for lung cancer and mesothelioma, respectively). A small proportion can emerge on a background of pathogenic germline variants (PGVs), which have the property of heritability. In general, PGVs may be initially suspected on the basis of the presence of specific clinical features. Such gene × environment interactions significantly increase the risk of developing lung cancer (1.5- to 3.2-fold). PGVs have been discovered involving the actionable driver oncogene, epidermal growth factor receptor (EGFR), with an EGFR T790M PGV rate of 0.3%-0.9% in the nonsquamous non–small-cell lung cancer subtype. Its appearance during routine somatic DNA sequencing in those patients who have not had a previous tyrosine kinase inhibitor should raise suspicion. In patients with sporadic mesothelioma, BAP1 is the most frequently mutated tumor driver, with a PGV rate between 2.8% and 8%, associated with a favorable prognosis. BAP1 PGVs accelerate mesothelioma tumorigenesis after asbestos exposure in preclinical models and may be partly predicted by clinical criteria. At present, routine germline genetic testing for thoracic cancers is not a standard practice. Expert genetic counseling is, therefore, required for patients who carry a PGV. Ongoing studies aim to better understand the natural history of patients harboring PGVs to underpin future cancer prevention, precise counseling, and cancer management with the goal of improving the quality and length of life.

As our knowledge and abilities in molecular genetics continues to expand, so does our ability to detect certain conditions/traits prenatally; however, it is unknown if this increase in scientific ability will be utilized by the consumers of genetic services. Our study gauges the consumers’ opinion towards reproductive testing for diseases and enhancements. Prior to their initial visit with a genetic counselor, patients were asked to participate in a survey. These consumers were asked to indicate traits and conditions for which they would choose reproductive genetic testing. The majority of respondents would elect to have prenatal genetic testing for mental retardation (75%), deafness (54%), blindness (56%), heart disease (52%), and cancer (51%). Our results indicated that 49.3% would choose testing for a condition that resulted in death by 5 years of age, whereas only 41.1%, 24.9%, and 19% would choose testing for conditions that results in death by 20, 40, and 50 years of age, respectively. Most respondents did not desire testing for enhancements (e.g. 13% would choose testing for superior intelligence). Our study suggests that consumers desire more reproductive genetic testing than what is currently offered; however, their selection of tests suggests self-imposed limits on testing.