Additionally, both genetic and nongenetic tests can provide information about a person’s medical future. As such, some authors have concluded that many genetic test results “may cause stigmatization, family discord and psychological distress.

Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Results in some cases may return inconclusive or uncertain. Negative impact on family and personal relationships.

Although genetic health professionals often refuse testing when controversial ethical dilemmas arise, in some cases, genetic health professionals reported that they had inadvertently provided genetic tests they deemed to be unethical as a consequence of client deception or withholding of information.

These include respect for privacy; autonomy; personal best interest; responsibility for the genetic health of future children; maximising social best interest/minimising serious social harm; the reproductive liberty of individuals; genetic justice; cost effectiveness; solidarity/mutual aid, and respect for difference.

Second, the risks of genetic testing may not be obvious because the primary risks are psychological, social, and financial. The psychosocial risks include guilt, anxiety, impaired self-esteem, social stigma, and insurance and employment discrimination. Third, genetic information often has limited predictive power.

A major impediment of a genetic risk prediction test for common diseases is that it can’t be used as a diagnostic instrument because it has low accuracy. Existing tests for rare genetic diseases are straightforward and accurate because they test for a faulty copy of a single gene.

Direct-to-consumer genetic testing promotes awareness of genetic diseases. It provides personalized information about your health, disease risk, and other traits. It may help you be more proactive about your health. It does not require approval from a healthcare provider or health insurance company.

Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer. There are many different kinds of genetic tests.

It takes about 1 week to get the results. A positive cell-free DNA test result should be followed by a diagnostic test with amniocentesis or CVS. What do the different results of prenatal screening tests mean?

Pros of Genetic Testing

• Treatment of Disease.
• Lifestyle Changes for Disease Prevention.
• Stress Release from Lack of Genetic Variants.
• A Negative Test Could Mask Additional Causes.
• A Positive Test Could Unnecessarily Increase Stress.
• Genetic Purgatory.
• Cost.
• Privacy Concerns.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

Genetic testing can provide only limited information about an inherited condition. The test often can’t determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time.

BRCA testing is usually covered by insurance if certain criteria are met. There are different types of BRCA testing, ranging in cost from $475 to about $4,000. Genetic counselors are helpful in determining what type of testing is indicated. Testing is less expensive once a mutation has been identified within a family.

BRCA Inheritance: Are Your Family Members at Risk? Because BRCA mutations are hereditary, they can be passed down to family members regardless of gender. This means that if you have a BRCA mutation, you inherited it from one of your parents.

Who should consider BRCA gene testing?

• A personal history of breast cancer diagnosed before age 45.
• A personal history of breast cancer diagnosed before age 50 and a second primary breast cancer, one or more relatives with breast cancer, or an unknown or limited family medical history.

By age 70, women BRCA1 carriers have a slightly higher risk of developing breast cancer than BRCA2 carriers. Also, BRCA1 mutations are more often linked to triple negative breast cancer, which is more aggressive and harder to treat than other types of breast cancer.

Like other inherited gene mutations, BRCA1 and BRCA2 gene mutations are rare in the general population. In the U.S., about 1 in 400 people have a BRCA1/2 mutation [28]. Prevalence varies by ethnic group. Among Ashkenazi Jewish men and women, about 1 in 40 have a BRCA1/2 mutation [28].

To help women with BRCA changes, some experts did a study that let them predict how much breast and ovarian cancer risk could be reduced by:

1. Having the breasts removed (mastectomy).
2. Having the ovaries removed (oophorectomy).
3. Having a mammogram and breast MRI every year starting at age 25.

Women who have a BRCA1 or BRCA2 genetic mutation are at an increased risk of breast, ovarian, and pancreatic cancers. Men who have a BRCA1 or BRCA2 genetic mutation are at an increased risk of prostate, pancreatic, and breast cancers.

Although only 1 percent of all breast cancers occur in men, a BRCA mutation increases the risk of developing the disease, particularly for men with BRCA2. Being BRCA positive also raises a man’s chance of developing pancreatic cancer, melanoma, as well as a more aggressive form of prostate cancer.

Everyone has two copies of the BRCA1 and BRCA2 genes, one copy inherited from their mother and one from their father. Even if a person inherits a BRCA1 or BRCA2 mutation from one parent, they still have the normal copy of the BRCA1 or BRCA2 gene from the other parent.

Groups at Higher Risk for BRCA Gene Mutations

• Several relatives with breast cancer.
• Any relatives with ovarian cancer.
• Relatives who got breast cancer before age 50.
• A relative with cancer in both breasts.
• A relative who had both breast and ovarian cancers.
• A male relative with breast cancer.

If you test positive for an abnormal BRCA1, BRCA2, or PALB2 gene and you have never had breast cancer, you now know that you are at much higher-than-average risk of developing it over the course of your lifetime. The average lifetime risk of breast cancer for women is about 12%.

BRCA Mutations When a BRCA gene is mutated, it may no longer be effective at repairing broken DNA and helping to prevent breast cancer. Because of this, people with a BRCA gene mutation are more likely to develop breast cancer, and more likely to develop cancer at a younger age.

About 1 in 300 people to 1 in 800 people carry a BRCA1 or BRCA2 mutation. Anyone can have these mutations, but they are found more often in certain ethnic groups. These groups include people of the following backgrounds: Eastern or Central European Jewish.