Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Abstract

The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for interpretation. Genetic counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members (pre-test counseling), explain to patients the implications of the test results (post-test counseling), and assist in testing family members at risk.

Maternal perceptions of BRCA genetic counseling communication processes about disclosing cancer risk information to children and adult relatives

“…Currently, many probands who undergo HBOC genetic testing are offered the option of multi‐gene panel testing rather than BRCA testing alone . Implications of panel test results for family members can be far more complex owing to uncertainty in cancer risks of PV in other genes, the potential for learning about elevated risks for cancers that are inconsistent with one's personal and/or family history, and the likelihood that more variants of uncertain significance will be identified . Finally, alternative service delivery models are increasingly being used to meet demands for HBOC genetic counseling (eg, telephone, video, or group counseling) .…”

“…[27][28][29] Implications of panel test results for family members can be far more complex owing to uncertainty in cancer risks of PV in other genes, the potential for learning about elevated risks for cancers that are inconsistent with one's personal and/or family history, and the likelihood that more variants of uncertain significance will be identified. [30][31][32] Finally, alternative service delivery models are increasingly being used to meet demands for HBOC genetic counseling (eg, telephone, video, or group counseling). 33 Assessing patientprovider communication in these settings compared with traditional in-person counseling may elucidate whether patterns of communication are different and whether that may impact patient satisfaction and outcomes.…”

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

“…All of these patients should ideally receive pre and posttest counseling with their testing (Stanislaw et al. ). As a result, there has been a steady increase in the number of referrals for genetic services within Military Treatment facilities (MTFs), with wait times to see a geneticist in excess of 6 months and longer.…”

“…By far, most of the military medical beneficiary population are young, healthy individuals, and so, most genetic testing performed within the MHS is predictive genetic testing (e.g., family history of cancer) and carrier screening. All of these patients should ideally receive pre and posttest counseling with their testing (Stanislaw et al 2016). As a result, there has been a steady increase in the number of referrals for genetic services within Military Treatment facilities (MTFs), with wait times to see a geneticist in excess of 6 months and longer.…”

Application of Next-Generation Sequencing in the Era of Precision Medicine

“…These include validation and comparison among platforms, data reliability, robustness and reproducibility, and quality of assemblers; (G) it is crucial to have a complete knowledge of family and personal history of the patient to help deine the ideal analysis method, the analysis of the results obtained, and the post-test counselling and management [124][125][126][127].…”