Genetics and Genomics Program
Genetics and Genomics Program
The Clinical Genetics and Genomics Program at Leonard Cancer Institute at Providence Mission Hospital is specifically designed to help you understand how genetics influences your and your family’s health. At the leading edge of precision medicine, our program delivers personalized risk assessment, disease prevention, and early detection strategies to patients and families with new diagnoses, personal history, and/or family history of disease.
The Clinical Genetics and Genomics Program offers genetic counseling and testing to shift the focus from uncertainty to empowerment and prevention. Our licensed, board-certified genetic counselors provide detailed risk assessments to help you understand your risk to develop cancer or heart disease. If you opt for genetic testing, your counselor will identify the most useful tests to help determine your risks. After testing, your genetic counselor will interpret your results, review them with you, and recommend individualized screening and prevention measures that can empower you to reduce and manage your risks.
We offer multiple service options to meet individual needs for genetic testing, including:
- In-person appointments, telehealth appointments, and walk-in clinics.
- Full-service genetic counseling consultation for the most comprehensive pre-test and post-test information and recommendations.
- Walk-in genetics clinics with rapid sample collection for convenient genetic testing that includes expert coordination and oversight by a licensed and board-certified genetic counselor.
- Post-test genetic counseling for individuals who have had previous genetic testing and would like an updated or expert interpretation of their results, would like to consider having updated or additional testing, or would benefit from having a formal comprehensive risk assessment.
Our program helps patients and families to better understand and manage their disease risks. While our focus is hereditary cancer and inherited cardiovascular disease, our genetic counselors are qualified genetics professionals who act as a resource for all types of inherited risks and are prepared to discuss the risk(s) of other familial conditions including adult-onset neurological diseases. Genetics is a dynamic and quickly evolving field that supports individualized wellness and disease prevention. Any person who is concerned about their personal and/or family history may benefit from genetic counseling, consideration of genetic testing and receiving a genetic risk assessment.
At the new state-of-the-art Leonard Cancer Institute, located across from the Shops at Mission Viejo mall, the Genetics and Genomics Program provides cutting-edge personalized medicine utilizing high-quality genetic evaluation and testing, for optimal disease identification, prevention, and management. Services include:
- Genetic counseling
- Genetic testing
- Cancer genetics risk assessment
- Genetic consultation
- Cancer testing
- Genetic cancer screening
- Familial hypercholesterolemia testing
Many people undergoing genetic testing will benefit from a formal pre-test consultation with a genetic counselor. For some people however, especially those with a cancer diagnosis, a visit to our Walk-In clinic is a convenient alternative that allows eligible patients to provide a blood or saliva sample and receive expedited information for a standard, comprehensive genetic test with a brief overview of possible results. These programs are overseen by expert genetic counselors and an opportunity for a formal post-test consultation with our providers is offered once genetic results are returned.
Our CARE (Comprehensive Assessment Risk and Education) program, leveraging Artificial Intelligence (AI) technology, aims to bring preventative precision medicine to routine medical care appointments. Patients receive a questionnaire ahead of their regular appointment, such as a mammogram screening, which collects information about the patient's personal and family history of cancer. This information is used to provide personalized care for the patient by determining if genetic testing is indicated and by calculating the patient's estimated lifetime risk of breast cancer using a computer modeling tool. For those who report a history suspicious for a hereditary cancer condition, this tool also provides education about genetic testing and allows patients to undergo expedited genetic testing through our Walk-In Clinics. This testing is overseen by a genetic counselor, with the option for a post-test genetic counseling appointment to review the results and formal risk assessment.
As part of our services, the Clinical Genetics and Genomics Program screens pathology reports of patients who undergo a procedure at our Providence hospitals in Orange County to assess if they meet criteria for and may benefit from genetic counseling and genetic testing. Our genetic counselors review multiple factors including anatomic and molecular pathology reports as well as any personal and family history from the medical record, to determine if a patient meets national guideline recommendations for a genetic evaluation. If eligible, their doctor will be notified of the benefit for genetic services and the individual may be referred to the Clinical Genetics Program and offered an appointment or Walk-In visit.
Our genetic counselors explore local, regional, and national studies to identify meaningful genetic research opportunities that may benefit our patients and their families. Research participation is completely voluntary and is typically offered when specific personal and/or family history meets study criteria and, therefore, provides the most meaningful patient participation.
The Genetics Program is located on the second floor of the Leonard Cancer Institute. To learn more about genetic counseling and testing, or to schedule a genetic counseling appointment, please call 949-242-6909.
The Genetics Program at the Leonard Cancer Institute at Mission Hospital helps patients and families to better understand and manage their disease risks. While our focus is hereditary cancer and inherited cardiovascular disease, our genetic counselors are qualified genetics professionals who act as a resource for all types of inherited risks and are prepared to discuss the risk(s) of other familial conditions including adult-onset neurological diseases. Genetics is a dynamic and quickly evolving field that supports individualized wellness and disease prevention.
Any person who is concerned about their personal and/or family history of cancer may benefit from genetic counseling, consideration of genetic testing and receiving a genetic risk assessment.
Our cancer genetics services are beneficial for individuals who have a personal and/or family history that include:
- Cancer (especially breast, colon, or uterine) diagnosed at an unusually young age, typically before age 50
- Ovarian, pancreatic, or metastatic or aggressive prostate cancer diagnosed at any age
- Close family members diagnosed with a combination of same or related types of cancer. For example: breast, uterine, ovarian, pancreatic, prostate, melanoma, colon or other gastrointestinal cancers
- A rare or unusual type of cancer. For example: medullary thyroid cancer, pheochromocytoma/paraganglioma, or childhood sarcoma
- Multiple separate cancers diagnosed in the same person (not metastatic cancer spreading to other parts of the body). For example: breast cancer in both breasts or a person with a history of breast cancer and a new diagnosis of colon cancer
- A total lifetime history of 10 or more colon polyps
- Breast cancer or prostate cancer diagnosed in an individual of Ashkenazi Jewish ancestry
An initial genetic consultation typically takes an hour. During the consultation, the genetic counselor will review your personal medical history and three-generation family history. With this information, the genetic counselor will:
- Create a tailored risk assessment regarding the chance you or your relatives may have inherited a genetic syndrome.
- Assess your risk of developing cancer or heart disease based on your personal and family history.
- Assess your risk of developing additional primary cancers and your relatives’ risks of developing cancer.
- Provide an explanation of inherited syndromes and familial disease risk.
- Recommend and review the best genetic testing options and identify the most informative individual(s) to test within the family. If you elect to proceed with genetic testing, a blood or salvia sample can be collected during your initial consultation.
- Support you in family communication, coping with results, psychological and social guidance.
- Document a detailed consultation report with recommendations.
A physician referral is required for all services. A brief telephone interview is completed at the time of scheduling to obtain initial personal and family history, and to answer questions about our genetic counseling services. All new patients are sent a detailed personal and family history questionnaire to complete in preparation for their consultation.
To schedule an appointment call: 949-573-9492 ext 4033.
To fax records or a physician referral: 949-365-2271
Learn more about preparing for your visit
Most appointments are provided onsite at our clinics; however, virtual telegenetics appointments with a licensed, board-certified genetic counselor are also available. For more information please call 949-573-9492 ext 4033.
If a patient elects to pursue genetic testing during their genetic counseling appointment, the genetic counselor and patient will discuss the best test selection including the amount and types of genes to be tested. The process of genetic testing involves obtaining a DNA sample (either a small blood or saliva sample), which is sent to a genetic laboratory to analyze a specified set of genes which look for any "errors" or mutations that cause genes to fail to work properly. The positive identification of this type of gene mutation indicates that a patient and/or their close family members may be at increased risk of developing certain types of cancers or other health conditions. Fasting is not required for a DNA sample collection. We ask that patients do not eat or drink 30 minutes prior to a saliva sample collection only.
Genetic test results are typically received within about 2-3 weeks from sample collection. Once results are available, the genetic counselor will call the patient to review the results and offer a post-test consultation (typically a 30 minute appointment), when appropriate. During the results phone call and/or post-test visit, the genetic test results are reviewed, and individualized screening and prevention recommendations are provided for the patient and their family members.
Genetic testing is billed by the third-party genetic testing laboratory directly. For most, the cost of genetic testing does not exceed $250. If the cost of the test is a barrier to you, your genetic counselor can discuss laboratory patient assistance programs and help you apply for them.
Genetic counseling consultation reports and genetic test results are provided to the patient, the referring physician, and to any additional patient-requested healthcare providers or relatives. All personal and family information and genetic test results are confidential and are not released without the patient's prior written or verbal consent.
Some patients have expressed concerns that insurance companies may use genetic information to discriminate against them. There are federal and state laws including HIPAA that protect patient privacy and provide protection against genetic discrimination and there are no documented cases of genetic discrimination following genetic counseling or testing for disease risk. The Genetic Information Nondiscrimination Act (GINA) of 2008 is a federal law that protects patients from health insurance eligibility and cost discrimination as well as from employment discrimination. Our genetic counselors can provide more information about this during the consultation.
Advanced Cardiovascular Genetics Care
Providence offers advanced cardiovascular genetics services for individuals and families with inherited heart disease including arrhythmias, cardiomyopathy and aortic conditions. Our experts provide cardiovascular genetic counseling, genetic testing and personalized risk assessment to help clarify diagnosis, guide treatment and identify risks for family members before serious heart events occur.
Cardiovascular Genetic Testing at Providence
Bree Johnston shares how cardiovascular genetic testing at Providence helped uncover the reason behind her high cholesterol and family history of heart disease, giving her answers and a path forward.
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Frequently Asked Questions
Genetic testing may help to rule out an inherited syndrome, provide an explanation for the occurrence of cancer or heart disease in you or in your family and predict elevated risk of developing additional disease. For individuals with a current cancer diagnosis, genetic testing can provide valuable information to your treating physicians in developing the best treatment plan.
Genetic counseling is a process of receiving risk estimates, accurate understanding, management planning and empowerment for individuals and families who are concerned about their risks. It involves meeting with a licensed certified genetic counselor to review your personal and family history, to accurately interpret genetic test results, and to receive compassionate support. Genetic counselors provide personalized recommendations for screening, prevention, and risk reduction.
Genetic testing and genetic counseling testing results can provide management recommendations to help treat and prevent disease and can be used to more accurately advise family members.
Health insurance typically covers genetic counseling consultations. The cost of genetic testing for people who qualify based on the pattern of cancer in their personal and/or family history also tends to be covered. If you have healthcare coverage through an insurance exchange, the Affordable Care Act (ACA) includes provisions for genetic testing. If genetic counseling and/or genetic testing aren’t covered by your health insurance, there are low-cost options and you may be eligible.
Our genetic counselors are qualified genetics professionals for all types of inherited risks, and are prepared to discuss the risk of developing other disorders of familial concern, including hematologic and adult neurologic syndromes. They can also help interpret direct-to-consumer tests and provide clarity on the implications of results for you and your family members.
On average, genetic test results are available within 2-3 weeks./p>
- Positive: A harmful mutation identified that may increase risk of developing certain conditions.
- Negative: No mutation identified.
- Variant of Unknown Significance: Genetic alteration identified, but our understanding of it is limited at this time.
Genetic testing is just one tool that genetic counselors use to provide you with the very best in personalized medicine that genetic testing alone cannot provide. Genetic counselors are genetic experts and remain up to date on the constantly changing field of genetics. They are trained to tailor, translate, and communicate complex genetic information into practical, accurate, and understandable decision-making information that you, your relatives, and your healthcare team can use to provide the best in individualized healthcare management. They help to insure the very best outcomes for you and your relatives.
Continued contact with genetic professionals is advised for many individuals who have undergone genetic counseling and/or genetic testing. Over time, new technologies are developed, new genes become available for testing, insurance criteria for testing may change making testing more accessible and management updates for mutation carriers become available. Additionally, family histories change over time making reassessment of the family history beneficial. We recommend having genetic counseling if you have significant family history and you previously had genetic testing without seeing a genetic counselor. In addition, we recommend contacting your genetic counselor every few years.
- If you previously had genetic counseling but genetic testing was not done: If you underwent genetic counseling without genetic testing, you may benefit from meeting with a genetic counselor again. The criteria for genetic testing have expanded, insurance companies are much more likely to cover genetic testing, and the cost of genetic testing has decreased significantly. A genetic counselor can help you review your options, order the appropriate test, and review your results and their implications.
- If you previously had genetic testing which identified a pathogenic mutation (positive results): With time, more information becomes available regarding specific hereditary cancer syndromes. If your previous genetic testing identified a mutation, it is important to keep in touch with your genetic counselor periodically to review the most up to date information regarding cancer risks and management guidelines and to make sure that your previous genetic testing was comprehensive.
- If you previously had genetic testing which did not identify any mutations (negative results): With time, more hereditary cancer genes are being identified, comprehensive genetic testing is becoming more accessible, and genetic technologies are advancing. If your previous genetic testing was uninformative because it did not identify any mutations, updated genetic testing may be indicated.
- If you previously had genetic testing which identified a variant of unknown or uncertain significance (VUS): With time, more information becomes available and variants of uncertain significance may get reclassified. A genetic counselor can review the current literature and data regarding your VUS, discuss what is known, what steps may be taken to reclassify it, and recommend further genetic testing if indicated.
Genetic testing for tumor molecular profiling (somatic) is different than genetic testing for inherited cancer risk (germline). Genetic testing of cancer tissue helps to characterize the tumor while genetic testing for inherited risk helps to estimate and reduce familial cancer risk. A genetic counselor can review tumor genetic test results in conjunction with your personal and family history to help you understand your results and your risk for an inherited cancer susceptibility syndrome.
Some DTC companies, such as 23andMe and Ancestry, offer "health" tests. These tests are not diagnostic and should not be used to make medical decisions. If you previously had DTC genetic testing and were told you had an increased risk of developing a certain condition, such as cancer, a genetic counselor can review these results with you and, if indicated, order diagnostic confirmatory testing.
In addition, DTC testing is very limited, looking at a few mutations while clinical genetic testing fully analyzes those and other relevant genes. Therefore, "normal" DTC testing results do not actually rule out hereditary cancer syndromes or other hereditary risks.
No. The Genetic Information Nondiscrimination Act (GINA) prevents health insurers from using your genetic information to deny coverage, set rates or influence any form of underwriting for health insurance. However, GINA doesn’t cover other types of insurance such as life, disability or long-term care.
GINA also protects against the use of other family members’ genetic test results or medical history for health insurance discrimination. The act also protects against discrimination by employers. Questions and concerns about privacy relating to genetic test results are reviewed during a genetic counseling visit.
Part of the Providence Cancer Institute of Orange County
From diagnosis to recovery and beyond, we’re with our patients every step of the way. We’ve integrated three nationally accredited cancer programs – Mission, St. Joseph and St. Jude – to provide you with:
- Board-certified cancer specialists who collaborate across locations to provide convenient, connected care close to your home or work.
- Innovative screening that can detect more than 50 types of cancer through a single blood draw.
- Patient navigators for each cancer type who will help you manage your treatment and find the resources you need.
Learn more about the Providence Cancer Institute of Orange County