Hereditary Cancer Genetic Panel Testing: A Review of the Literature

Abstract

Cancer genetic testing (CGT) is a powerful diagnostic test that improves cancer prevention and early detection among individuals at high genetic risk of cancer. Since the completion of the mapping of the Human Genome Project, CGT has become increasingly available in the clinical setting. However, as gene discovery and sequencing technology improve, the impact of these advancements on patients is less understood. The use of multigene cancer gene panel tests has become increasingly prevalent; as such, the likelihood of incidental or inconclusive findings has increased. The author conducted a literature review to outline the science on CGT methods, the psychosocial responses to testing among patients, and the unique role of nurses in this process. A significant gap in the literature exists regarding multigene cancer genetic panel tests and the associated experiences and decision-making processes among individuals who have had testing. Future research will specifically explore the experiences of young women with breast cancer who have undergone hereditary cancer risk assessment genetic panel testing that reveals incidental or inconclusive findings.

The role of genetic counselling in oncology

“…Each of the above-mentioned issues should be brought to the individual's attention and hence they formulate the underpinnings of informed consent. Signing a consent form should be preceded by disclosing full information on the possibilities and limitations of a given genetic test, the consequences of diagnosing a cancer predisposition syndrome and its management [8,16,17,22,23].…”

“…In instances when the condition might be related to mutations in many different genes, multigene panels have been introduced. There are no uniform recommendations on the number of genes that should be included in such a panel, and there are ongoing discussions on the relevance of particular genes to some cancers [18,22,23].…”

Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program

“…Further studies are indicated to evaluate patients meeting criteria compared with those who do not, as well as pathogenic variants identified outside of the expected spectrum. Additionally, concern should be given to the mental distress that genetic testing may put on an individual, especially when little to no information is available on newer or nonactionable genes ( Harris & Hutson, 2019 ). Testing decisions should be individualized based on personal history, family history, and psychological mentality.…”

Recent trends in smartphone‐based optical imaging biosensors for genetic testing: A review

“…Herein, three types of smartphone‐based optical imaging biosensors are discussed according to the detection technique: smartphone‐based colorimetric biosensor, 14 smartphone‐based fluorescence biosensor, 15 and smartphone‐based microscopic imaging biosensor (see Figure 1). The targets of these detection techniques include the different disease biomarkers of infectious diseases, 16 hereditary diseases, 17 and cancers 18 . It must be noted that these three types do not fully cover all the existing types of smartphone‐based biosensors, other types of smartphone‐based biosensors such as electrochemical sensors and multimode‐sensing sensors are also applied to the field of genetic testing; however, the review mainly considers the common optical biosensing applications of these three types as per the existing literature.…”

“…Summary of the representative achievements of smartphone‐based optical imaging biosensor in three different applications. The applications cover detections of infectious diseases, hereditary diseases, and cancers 16–18 . Reproduced with permission from Ref.…”