Anna Newlin (NorthShore)
Yes, we do have the ability to analyze fresh or archived tumor tissue to identify genetic alterations that were involved in the development of the cancer. Typically the analysis focuses on a subset of genes and associated mutations that are commonly found in a specific cancer (ie lung, colon or pancreatic) and that have potential treatment implications. The results can influence the choice of chemotherapy or eligibility for clinical trials. NorthShore oncologists frequently order internally developed hotspot gene panels for cancer patients that may benefit from this type of analysis. Occasionally mutations identified in the tumor may be indicative of an associated hereditary predisposition, triggering consideration of a genetics referral to guide the appropriate follow-up assessment and germline (blood or saliva) testing.

Anna Newlin (NorthShore)
Personal and family history are important elements in interpreting test results to determine appropriate screening and prevention measures for the patient and their close relatives. For example, a woman who tests negative for any identifiable hereditary breast cancer risk may still face a heightened breast cancer risk based on family history of the disease. We are able to estimate her lifetime breast cancer risk based on clinically validated models to determine if additional breast cancer screening such as breast MRI is indicated. Most consultations, as well as genetic testing, are covered by insurance based on personal or family history

Anna Newlin (NorthShore)
Since hereditary predisposition contributes on average to roughly 5 to 10% of common conditions such as cancer, most cancer genetic testing is negative. While this reduces the likelihood of a hereditary risk, there is still a heightened risk based on personal and family history. A newer area of genetic testing are markers called SNPs that are scattered across our genetic landscape that can help personalize an individual's breast and prostate cancer risk based on a polygenic risk score. Similar scores are available for cardiac risk and are being developed for other common conditions. This is an exciting development as it is applicable to a broader population.

Anna Newlin (NorthShore)
Most genetic testing is driven by personal or family history for a specific condition such as colon cancer, aneurysm, or retinal dystrophy, just to name a few. Genetic testing can either be diagnostic of a hereditary condition or predictive of heightened risk that can help inform medical management. A newer example of genetic testing is pharmacogenomics that analyzes an individual's personalized medication response which can be informative in guiding prescription medication choices.

Anna Newlin (NorthShore)
Yes, once the specific SNP-based polygenic risk score is clinically validated it can be used to guide medical management such as determining if personalized risk warrants supplemental screening. There is a newer technology called CRISPR that allows for editing of genes to help edit our deleterious mutations. This is still very much in the research space and will take time before it has direct clinical applications.

Anna Newlin (NorthShore)
A consultation with one of the genetic specialists at the Center for Personalized Medicine includes a detailed review of an individual’s personal and family history in order to provide an accurate risk assessment for a variety of conditions that can have a hereditary basis. As an example, an individual that is seeking a consultation for a family history of cancer will be encouraged to obtain information about the types of cancers, ages at diagnosis, and genetic testing in relatives. We may also ask questions about screening habits (mammograms, colonoscopy) of family members and any atypical findings. In advance of the consultation, a questionnaire is sent to the patient asking for relevant personal and family history information that helps individuals collect and document the details needed.

Anna Newlin (NorthShore)
A genetic counselor is a master's level trained geneticist. We are trained to elicit relevant personal and family history information to provide a risk assessment and to inform discussion of genetic testing. We help patients decide what scope of genetic testing is best for them and they feel most comfortable with. MD geneticists are able to provide the same guidance but typically are tasked to help guide medical management decisions and provide clinical exams for diagnosis of specific conditions such as Ehlers Danlos, a connective disorder. There are also molecular geneticists that work primarily in the lab running assays and interpreting the results to generate a test report.

Anna Newlin (NorthShore)
Although there is a definite genetic component to bi-cuspid aortic valve (BAV) disease, the precise patterns of inheritance have been elusive. Approximately 9% to 15% of close family members also have BAV disease. These percentages are higher than in the general population (1%−2%), demonstrating the influence of genetics in this disease. Mutations in the NOTCH1 gene have been implicated in some patients with BAV disease. Even if NOTCH1 testing was included in the genetic screening at Mayo there still may be a role for additional clinical evaluation and genetic testing. You can call the Center for Personalized Medicine at 847-570-1029 and ask to speak to a genetic counselor to review your family’s history and determine if further consultation would be beneficial. I hope that both your son and your husband are doing well.

Anna Newlin (NorthShore)
A consultation with one of the genetic specialists at the Center for Personalized Medicine includes a detailed review of an individual’s personal and family history in order to provide an accurate risk assessment for a variety of conditions that can have a hereditary basis ( ie cancer, cardiomyopathy, aneurysmal disease) and determine if genetic testing would be indicated and informative. In the instances where genetic testing should be considered, we review the testing options as well as the optimal approach for that individual and family (the most informative person to test may be an affected relative). The consultation also reviews whether the individual/family meets established insurance criteria for coverage of testing, the possible testing outcomes, and impact on medical management as well as federal and state genetic privacy laws. The results are then reviewed with the patient and interpreted within the context of their personal and family history to determine screening.

Anna Newlin (NorthShore)
Direct to consumer testing (DTC) such as 23 & Me for health assessment is a more superficial analysis of an individual’s genetic make-up and involves looking at markers (SNPs) rather than the full gene sequencing that represents clinical testing performed at a CLIA certified laboratory. As such, testing through 23 & Me can lead to false reassurance and can also include false-positive results. Since there is no direct oversight of the DTC companies the FDA issued the following statement: Consumers and health care professionals should not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries. Such decisions require confirmatory testing and genetic counseling. The test also does not provide information on a person’s overall risk of developing any type of cancer. The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor.

Anna Newlin (NorthShore)
Additional information detailing the limitations of DTC testing and the importance of clinical confirmation of any DTC results can be found in the following interactive New York Times article: https://www.nytimes.com/interactive/2019/02/01/opinion/23andme-cancer-dna-test-brca.html?module=inline

Anna Newlin (NorthShore)
They may share de-identified information.