Genetics and Genomics
Our centers for clinical genetics and genomics are specially designed to help you understand how genetics influence you and your family’s health.
Our team uses your genomic information to offer insight into your risks for 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 can discuss the risk of other genetic conditions including adult-onset neurological diseases. By combining leading edge research with clinical expertise, we provide personalized care to support your specific health needs.
By assessing your personal and familial health history, your genetic test results can help determine if you have a high risk of developing cancers and other life-threatening illnesses.
Genetics consultations allow us to create a personalized and customized risk reduction plan suited uniquely for you. Prevention strategies may include enhanced screenings, lifestyle and wellness programs, medication and surgery options. Access to our specialized cancer and cardiovascular genetics programs is convenient and easy with our in-person and telehealth appointments. For some, our walk-in clinics are a way great way to receive expedited genetic evaluation.
Our genetic and genomic services include risk-assessment, genetic counseling, detailed genetic consultations, and genetic testing. In order to better understand and manage your risks, we offer treatment, management, and prevention plans personalized for your unique medical need.
Our Genetics and Genomics Programs provide individuals with:
- Comprehensive genetic counseling and risk assessment
- An explanation of inherited disease and familial risk
- Selection and interpretation of appropriate and valid genetic testing
- Personalized risk management, risk reduction, and disease prevention plan
- A discussion of current expert recommendations and management options
- Risk estimates and help communicating recommendations to family members
- A detailed consultation report sent to referring and treating physicians
Our genetic and genomic services include risk-assessment, genetic counseling, detailed genetic consultations and genetic testing. In order to better understand and manage your risks, we offer treatment, management and prevention plans personalized for your unique medical need.
If you or a family member can answer “yes” to any of the following questions, we encourage you to schedule a consultation with one of our genetic counselors.
Has anyone had any of the following:
- Breast, colon, uterine, kidney or prostate cancer before age 50?
- Ovarian, pancreatic, or male breast cancer at any age?
- Aggressive or metastatic prostate cancer at any age?
- A rare type of cancer, such as sarcoma, medullary thyroid cancer, paraganglioma, or pheochromocytoma?
- More than one type of cancer?
- Cancer affecting both sides of their body (bilateral), such as breast or kidney?
- Multiple relatives from the same side of the family with cancers (the same or different types)?
- Are you of Eastern European (Ashkenazi) Jewish ancestry? If so, has anyone had breast, ovarian, pancreatic, or prostate cancer?
Has any had any of the following:
- Unexplained sudden cardiac arrest or death at a young age (less than 50 years old)?
- Implantable cardiac defibrillator or pacemaker prior to 50 years old?
- Cardiomyopathy or an “enlarged heart”?
- Heart failure at a young age, especially before 60 years old?
- High cholesterol since a young age or high cholesterol that is not well controlled with medication?
- High LDL or “bad” cholesterol that was greater than 190 mg/dL before taking medication?
- A specific diagnosis from a cardiologist that could be genetic including hypertrophic cardiomyopathy, dilated cardiomyopathy, amyloidosis, Long QT syndrome, Brugada syndrome, Marfan syndrome, etc?
- The same diagnosis in two or more close relatives on the same side of the family?
Our Genetics and Genomics Programs offer 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 preventive measures that can empower you to reduce your risks.
Full-service genetic counseling for our most comprehensive genetics evaluation. 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 preventive measures that can empower you to reduce your risks. For those who have already undergone genetic testing, post-test genetic counseling is important and enables us to provide updated expert interpretation of your results, discuss possible options for additional genetic testing, a provide a formal comprehensive risk assessment to empower you and your family moving forward.
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.
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 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 testing and genetic counseling testing results can provide individualized management recommendations to help treat and prevent disease and can be used to more accurately advise family members.
Yes, the vast majority of patients have insurance coverage for genetic testing and genetic counseling testing. Our patient account specialists verify coverage prior to the consultation. Individuals may also check eligibility and co-pay information by calling their insurance provider.
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.
Inherited cancer syndromes are typically due to inherited “errors” or mutations within specific genes that normally function to prevent cancer. These inherited mutations cause a loss of normal gene function and increased risks of developing certain types of cancer. About 5-10% of individuals have a cancer caused by an inherited cancer syndrome.
Hereditary cardiac conditions are typically due to inherited “errors” or mutations within specific genes that disrupt the normal growth or function of the heart and other parts of the circulatory system. These inherited mutations can cause increased risk for progressive heart disease, especially at younger ages, or even cause dangerous cardiac events and lead to sudden death. About 1 in 250 individuals have inherited heart disease.
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. See Genetic Services for more information.
On average, genetic test results are available within 2-3 weeks.
- 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 did NOT have genetic testing: 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 that identified a 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 that 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 that 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.
Federal and state laws provide protection against genetic discrimination. The Genetic Information Nondiscrimination Act (GINA) of 2008 is a federal law that protects people from health insurance eligibility discrimination including additional fees or costs and also protects from employment discrimination. GINA does not protect against all forms of genetic discrimination and does not specify protection from other insurance discrimination such as life, disability, and long-term care. Learn more about GINA. Our genetic counselors can discuss any concerns you may have regarding genetic testing and privacy.
Doctors Specializing in Genetics and Genomics
At Providence, you'll have access to a vast network of dedicated and compassionate providers who offer personalized care by focusing on treatment, prevention and health education.
