How To Get A Test
A doctor or genetic counselor can provide advice and guidance on how to get a genetic test. They can help determine if a genetic test is necessary or helpful for each individual case.
Health insurance typically covers genetic tests for people who have a medical need for them, but the costs differ substantially. For example, one estimate suggests that the cost of genetic testing varies from
Guidelines For Genetic Testing For Relatives Of People Who Have Been Diagnosed With Prostate Cancer
Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who has been diagnosed with metastatic or high-grade prostate cancer.
See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information.
Healthcare providers who are specially trained in genetics can help people diagnosed with cancer learn if it was caused by an inherited mutation. There are several ways to find a genetics expert:
If you have prostate cancer and are considering genetic testing, you can find peer support through the following resources:
- FORCE support:
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- FORCE’s Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
- Read the stories from members of our community.
Some laboratories have assistance programs that help cover the cost for genetic testing for an inherited mutation:
How Much Does An Inherited Harmful Variant In Brca1 Or Brca2 Increase A Womans Risk Of Breast And Ovarian Cancer
A womans lifetime risk of developing breast and/or ovarian cancer is markedly increased if she inherits a harmful variant in BRCA1 or BRCA2, but the degree of increase varies depending on the mutation.
Breast cancer: About 13% of women in the general population will develop breast cancer sometime during their lives . By contrast, 55%72% of women who inherit a harmful BRCA1 variant and 45%69% of women who inherit a harmful BRCA2 variant will develop breast cancer by 7080 years of age . The risk for any one woman depends on a number of factors, some of which have not been fully characterized.
Like women with breast cancer in general, those with harmful BRCA1 or BRCA2 variants also have an increased risk of developing cancer in the opposite breast in the years following a breast cancer diagnosis . The risk of contralateral breast cancer increases with the time since a first breast cancer, reaching 20%30% at 10 years of follow-up and 40%50% at 20 years, depending on the gene involved.
Ovarian cancer: About 1.2% of women in the general population will develop ovarian cancer sometime during their lives . By contrast, 39%44% of women who inherit a harmful BRCA1 variant and 11%17% of women who inherit a harmful BRCA2 variant will develop ovarian cancer by 7080 years of age .
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Variant Of Uncertain Significance Or Benign Variant
The test could also identify genetic mutations that are more common in people without cancer, which doctors refer to as benign variants.
It may also indicate the presence of a mutation that has an uncertain effect on the persons risk of cancer.
Genetic testing procedures are safe, as they typically involve taking small blood, saliva, or tissue samples. However, the test can produce results that may be stressful or uninformative.
Also, not all health insurance plans fully cover genetic testing, which may result in a financial cost.
The Prostate Cancer Foundation suggests that males should consider genetic testing if they have:
- a family history of genetic mutations associated with prostate cancer or other cancers
- a family history of any cancer
- Ashkenazi Jewish heritage
People who are concerned about their family history of cancer should discuss genetic testing with a doctor or genetic counselor. They may recommend that the family member with prostate cancer gets a genetic test first, if possible. This will allow them to identify the specific mutation that the person might have inherited.
The provides additional guidance on who should consider genetic testing for any type of cancer. It suggests that genetic testing may be beneficial for people with certain patterns of cancer in their family, such as:
Are Harmful Variants In Brca1 And Brca2 More Common In Certain Racial/ethnic Populations Than Others
Yes. The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across specific population groups. While the prevalence in the general population is about 0.2%0.3% , about 2.0% of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes and the variants are usually one of three specific variants, called founder mutations. Other populations, such as Norwegian, Dutch, and Icelandic peoples, also have founder mutations .
Different racial/ethnic and geographic populations also tend to carry different variants in these genes. For instance, African Americans have BRCA1 variants that are not seen in other racial/ethnic groups in the United States . Most people of Ashkenazi Jewish descent in the United States who carry a BRCA variant have one of three specific variants . In the Icelandic population, a different variant in BRCA1 is common among those who inherit a mutation in BRCA1.
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How Does Genetic Testing Impact Prostate Cancer Care
Genetic testing has taken on a vital role in prostate cancer care. Expert Dr. Maha Hussain provides insight about genetics and biomarker testing, how results are used in determining treatment options, and key questions to ask to ensure the best care.
Dr. Maha Hussain is the Deputy Director of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. Learn more about this expert here.
What Are The Benefits Of Genetic Testing For Brca1 And Brca2 Variants
There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.
The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special check-ups, tests, or risk-reducing surgeries may not be needed.
A positive test result may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk.
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Genetic Predisposition To Prostate Cancer
PrCa risk is influenced by a combination of common and rare germline variants, with rare variants important within specific families and sub-groups and common variants a substantial contributor at the population level . Identifying an underlying genetic predisposition to PrCa is important for a number of reasons. For those identified at higher risk, tailored or targeted screening protocols can be implemented. For men receiving a diagnosis of locally advanced or metastatic disease, there are treatment implications relating to the use of targeted, molecular therapy if a germline variant is present. Finally, there is the critical opportunity for cascade testing amongst family members in those with moderate/higher risk variants. Cascade testing is important as many of the moderate risk genes implicated in the development of PrCa are well-established to predispose to several cancers, for which screening and risk-reducing measures may be available. Pathogenic variants in genes such as BRCA1, BRCA2 and MMR genes are well characterised with clear clinical management guidelines. There are also family planning options such as pre-implantation genetic diagnosis that can be explored.
Recommendation For Germline Genetic Testing In Prostate Cancer
With increased recognition of pathogenic germline alterations in prostate cancer, clinical guidance on the management of these patients is continuously evolving. The National Comprehensive Cancer Network Prostate Cancer Early Detection and Prostate Cancer guidelines recommend genetic testing to patients with a history of high- or very high-risk regional or metastatic prostate cancer, or localized disease with intraductal histology, a family history of high-risk germline mutations , or a strong family history of cancer . Positive findings of germline mutations warrant referral to a cancer genetics expert for further evaluation and management of the disease. In the setting of very-low, low, and intermediate risk disease as well as the absence of a family history of germline mutations, genetic testing would likely yield low detection rates. Studies to evaluate the feasibility of earlier assessment of these markers and the indication for intervention is currently ongoing .
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What Do Brca1 And Brca2 Genetic Test Results Mean
BRCA1 and BRCA2 mutation testing can give several possible results: a positive result, a negative result, or a variant of uncertain significance result.
Positive result. A positive test result indicates that a person has inherited a known harmful variant in BRCA1 or BRCA2 and has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when the tested individual will develop cancer. Some people who inherit a harmful BRCA1 or BRCA2 variant never develop cancer.
A positive test result may also have important implications for family members, including future generations.
- Both men and women who inherit a harmful BRCA1 or BRCA2 variant, whether or not they develop cancer themselves, may pass the variant to their children. Each child has a 50% chance of inheriting a parents variant.
- All blood relatives of a person who has inherited a harmful BRCA1 or BRCA2 variant are at some increased risk of having the variant themselves. For example, each of that persons full siblings has a 50% chance of having inherited the variant as well.
- Very rarely, an individual may test positive for a harmful variant not inherited from either parent. This is called a de novo variant. Such a variant is one that arose in a germ cell of one of the parents and is present in all the cells of the person who grew from that cell. The children of someone with a de novo variant are at risk of inheriting the variant.
Should You Get Genetic Testing For Cancer Risk
Scientific breakthroughs in medicine have always changed the way people see health and the human body. But most of us tend to push the envelope when theres a new understanding of health and disease.
When microbes were discovered, people thought every disease was infectious. When the genetic code and its influence on human health were revealed, people thought it would explain almost every disease.
Nowadays, we can see the shades of grey and understand that disease has many causes. They can be congenital and acquired, with a vast number of subtypes. Genetic disease is one of them, and it is not only a type of congenital disability.
Our genes can influence our susceptibility to specific ailments. But it is often a combination of genes and the environment that triggers the disease. For instance, we can have many people with type 2 diabetes in our family. But the risk of type 2 diabetes will be very low if we live a truly healthy lifestyle.
Based on this understanding, were covering in this article the topic of genetic testing. What is it about, and what is the actual reach of genetic testing to predict future disease?
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Who Should Get Genetic Testing
The most common type of genetic testing is prenatal testing. It should be performed in unborn babies if they are at a high risk of developing genetic abnormalities. It is also done in assisted reproduction to ensure that the embryos are fine before implanting them .
In adults, you can get tested to see if theres a genetic disease you can pass down to your children. It is also helpful to evaluate if youre at a higher risk of suffering from a type of disease or confirm a genetic disorder diagnosis.
Genetic testing is lately becoming very popular to find out what diseases you will suffer in the future. They can be direct-to-consumer genetic tests performed at home and sent to the provider. This approach can be inaccurate, and it is essential to be guided by a healthcare professional to avoid misunderstandings .
For example, in cancer, 5-10% of cases are related to genetic predisposition. Still, if you have a predisposition, it doesnt mean you will develop cancer. You may never activate these genes if youre not exposed to certain environmental elements. Thus, doctors would not run this type of test on every patient. They would only recommend this type of predictive genetic testing in patients with an established cancer trait in the family who is strongly suspected of carrying a cancer-related gene mutation .
Genetic testing to rule out hereditary cancer risk can be considered in these cases :
Inherited Variants Associated With Prostate Cancer Aggressiveness
Prostate cancer is biologically and clinically heterogeneous. Many tumors are indolent and are successfully managed with observation alone. Other tumors are quite aggressive and prove deadly. Several variables are used to determine prostate cancer aggressiveness at the time of diagnosis, such as Gleason score and PSA, but these are imperfect. Additional markers are needed because sound treatment decisions depend on accurate prognostic information. Germline genetic variants are attractive markers because they are present, easily detectable, and static throughout life.
Findings to date regarding inherited risk of aggressive disease are considered preliminary. As described below, germline SNVs associated with prostate cancer aggressiveness are derived primarily from three methods of analysis: 1) annotation of common variants within candidate risk genes 2) assessment of known overall prostate cancer risk SNVs for aggressiveness and 3) GWAS for prostate cancer aggressiveness. Further work is needed to validate findings and assess these associations prospectively.
Like studies of the genetics of overall prostate cancer risk, initial studies of inherited risk of aggressive prostate cancer focused on polymorphisms in candidate genes. Next, as GWAS revealed prostate cancer risk SNVs, several research teams sought to determine whether certain overall risk SNVs were also associated with aggressiveness.
Inherited Mutations Predisposing To Prostate Cancer
Our understanding of germline mutations as an important predisposing cause of aggressive prostate cancer has increased dramatically over the past few years. About 10% of prostate cancers are due to inherited germline mutations that have been present in every cell in the body since birth. This is as opposed to somatic mutations that occur after birth and are not passed on to children. 90% of prostate cancer is thought to be due to non-inherited, acquired somatic mutations.
Germline mutations play a key role in many breast and ovarian cancers. Inherited germline mutations that increase the risk of these cancers in femalesBRCA mutationsalso increase the risk for prostate cancer in men. BRCA1 mutations double the risk of metastatic castrate resistant prostate cancer BRCA2 mutations increase the risk of metastatic castrate resistant prostate cancer by a factor of 4-6, with earlier onset, higher grade at diagnosis and shorter survival. More than 20% of men with metastatic castrate resistant prostate cancers are found to have germline mutations, most commonly BRCA2.
Delivery Care Models For Germline Testing
NCCN guidelines recommend germline testing for a large subset of patients with prostate cancer, but the best care model to offer education and testing is unclear. The traditional clinical care delivery model for cancer genetics includes 2 in-person visits with a genetic counselor, the first for pretest risk assessment and education and the second to discuss the results. This is the most established pathway and, historically, has been utilized the most. However, broadening recommendations for germline testing create great demand that cannot be currently met in a timely fashion by the approximately 4000 genetic counselors in the United States.11,12 Therefore, oncologists and other providers are increasingly performing pretest counseling, ordering genetic testing, and providing posttest counseling for their patients, or following hybrid models .13
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How Are Pathogenic Variants Inherited
Genes come in pairs we get one copy from our mother and one copy from our father. At present all known breast cancer syndromes are inherited in a dominant pattern. This means that if someone has a pathogenic variant in one copy of a gene then there is a 50% chance that they will pass this onto their children. The risk of breast cancer can be inherited from either side of the family.
The diagram below illustrates this:
Health Disparities In Genetic Studies
The prevalence of these biomarkers and gene mutations among race and ethnicity have not been studied adequately, with limited data in patient populations other than Caucasians. In particular, few datasets on germline DDR mutations in AA men are available owing to low representation in clinical trials and genetic studies, with few studies specifically investigating DDR mutations in the AA population to date . Petrovics et al. reported that some germline variants in BRCA1/BRCA2 are more frequent in AA than white PCa patients .
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Who Should Think About Getting Tested
To find out if you have a genetic mutation linked to prostate cancer, you can take a simple blood or saliva test. If your urologist suggests genetic testing, they may send you to a genetic counselor. They may also order the test and then send you to a genetic counselor if the results are positive or uncertain.
There are two groups of men who may want to think about being tested for prostate cancer genes, Dr. Morgan said.
The first group are men with localized prostate cancer who have a family history of breast, colon, ovarian, pancreatic or prostate cancer.
Doctors may decide whether to suggest genetic testing based in part on his Gleason score-a grading system that describes how aggressive the cancer is.
The National Comprehensive Cancer Network, a not-for-profit group representing many leading cancer centers, suggests a man should think about genetic testing if he has a Gleason score of seven or higher and at least one of the following:
- At least one close blood relative with breast or ovarian cancer at age 50 or younger, or
- A least two family members with breast, ovarian or prostate cancers at any age.