Ask the Expert: Genetic Counseling with John Lee, MS, LCGC
John Lee, MS, LCGC is a genetic counselor in the GenRISK® Adult Genetics Program at Cedars-Sinai. On Thursday, October 29, 2015 he will present a Genetic Counseling Workshop at the Cancer Support Community Valley/Ventura/Santa Barbara. For those who can’t make it to the workshop, Mr. Lee was kind enough to provide the following Q&A for our readers.
How can genetic counseling be beneficial to someone with a genetic diagnosis or the possibility of having a hereditary disorder?
Genetic counseling can be an important resource for patients with a genetic diagnosis to help them navigate their healthcare decisions, psychological needs, and implications to family members. For those who have a possibility of having a hereditary disorder, genetic counseling can be useful to help them explore their options and make an informed decision about whether genetic testing is a good option for them.
For someone receiving genetic counseling for the first time, what can they generally expect from the experience?
A typical first genetic counseling session will include a review of your relevant personal medical history, a detailed review of your family history, and a discussion of how genetics may or may not play a role within your family. A genetic counselor will assess whether genetic testing is indicated, and if so, will discuss the options and outcomes regarding genetic testing to help patients make informed decisions about their medical management. If genetic testing is performed, there is usually a second genetic counseling session to review the results and determine the best recommendations for both the patient and their family members.
What have been some of the major recent breakthroughs in the study of BRCA 1 & 2, gene mutation, or hereditary breast and ovarian cancers?
The past few years have been an exciting time of growth within the genetic testing field. Several factors, such as rapidly advancing technology as well as a Supreme Court decision, have changed our ability to detect more hereditary causes of cancer.
In June 2013, a landmark decision by the Supreme Court invalidated several patents related to BRCA1 and BRCA2 testing held by a genetic testing laboratory. This ruling has allowed several other genetic testing laboratories to offer clinical testing to patients. This has resulted in lower prices, faster turn around times, and more accessibility for eligible patients.
New technology known as next generation sequencing has helped advance the field of genetic testing in several ways. Next generation sequencing allows laboratories to analyze multiple genes simultaneously in a more cost effective and time efficient manner than before. It has led to the discovery of several new genes related to hereditary cancer, including both hereditary breast and ovarian cancer. It has also provided us with more information on other moderate risk genes that were previously identified, but for which not much data was available.
There is a possibility that there are hereditary causes of cancer other than BRCA1 and BRCA2 and multi-gene panels may help in determining these other genetic mutations. Genetic testing may help identify a cause of a cancer, define risks for other cancers, and provide risk assessment for other family members. Genetic testing results can be used to tailor an individualized management plan for a patient based upon their level of risk. Options for patients may include increased screening, prophylactic surgery, or chemoprevention. Multi-gene panel tests may be appropriate for patients who have previously had BRCA1 and BRCA2 genetic testing and were negative, or for those who have never had genetic testing.
It is important to note that we are still learning more every day about these newer cancer susceptibility genes. Some genetic test results, known as variants of uncertain significance, can be difficult to interpret and may not offer immediate clarity for a patient regarding their cancer risks. Other results may detect a mutation in a gene where cancer risks are not fully known at this time. While certain families may benefit, newer genetic testing options may not be an optimal test for all patients.
What criteria do you recommend for deciding if someone can benefit from genetic counseling?
Genetic counseling can be beneficial for both patients who have had cancer and for those who have not. A genetic counselor will provide a full risk assessment based upon the personal and family history and determine if genetic testing is warranted. It is important to note that some forms of risk assessment can be evaluated without formal genetic testing and this can still be useful in helping a patient determine their risks and the best medical management. Genetic counseling is recommended for anyone that would like to know more about their possible risks of developing cancer.
John Lee, MS, LCGC is a genetic counselor in the GenRISK® Adult Genetics Program at Cedars-Sinai. Mr. Lee is actively involved in clinical cancer genetics, including risk assessment, genetic testing, case management, and genetic counseling services. He is an active member of the National Society of Genetic Counselors.
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