GEGG

What is Genetic Testing?

What are uses of GenetivcTesting?

What is difference between Genetic and

Genomic Testing?

What is the role of Genetic Testing in

Breast Cancer?

What is the cost of Genetic Testing?

Which Industries offer Genetic

Testing?
GENETIC
TESTING

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. More than
1,000 genetic tests are currently in use, and more are being developed.

METHODS
Several methods can be used for genetic testing:
 Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to
identify variations or mutations that lead to a genetic disorder.
 Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if
there are large genetic changes, such as an extra copy of a chromosome, that cause a
genetic condition.
 Biochemical genetic tests study the amount or activity level of proteins; abnormalities in
either can indicate changes to the DNA that result in a genetic disorder.

TYPES
There are a few different types of genetic tests:
 Some tests focus in on a specific area of one gene to look for a mutation.
 Some tests analyze one entire gene for the presence of mutations.
 Still other genetic tests, called panel tests, look at a set of genes for mutations all at
once. These tests can include as few as 2 genes, 5 or 6 genes, or as many as 25 to 30
genes — sometimes more. These are sometimes called “next-generation gene
sequencing” tests because they use the newest technology to sequence many genes at
once.
USES OF GENETIC

TESTING

NEWBORN SCREENING
Newborn screening is used just after birth to identify genetic disorders that can be treated early
in life. Millions of babies are tested each year in the United States. All states currently test infants
for phenylketonuria and congenital hypothyroidism. Most states also test for other genetic
disorders.

DIAGNOSTIC TESTING
Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In
many cases, genetic testing is used to confirm a diagnosis when a particular condition is
suspected based on physical signs and symptoms. Diagnostic testing can be performed before
birth or at any time during a person's life, but is not available for all genes or all genetic
conditions. The results of a diagnostic test can influence a person's choices about health care
and the management of the disorder.

CARRIER TESTING
Carrier testing is used to identify people who carry one copy of a gene mutation that, when
present in two copies, causes a genetic disorder. This type of testing is offered to individuals who
have a family history of a genetic disorder and to people in certain ethnic groups with an
increased risk of specific genetic conditions. If both parents are tested, the test can provide
information about a couple's risk of having a child with a genetic condition.
PREIMPLANTATION TESTING
Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized
technique that can reduce the risk of having a child with a particular genetic or chromosomal
disorder. It is used to detect genetic changes in embryos that were created using assisted
reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells
from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform
preimplantation testing, a small number of cells are taken from these embryos and tested for certain
genetic changes. Only embryos without these changes are implanted in the uterus to initiate a
pregnancy.

PREDICTIVE AND PRESYMPTOMATIC TESTING

Predictive and presymptomatic types of testing are used to detect gene mutations associated with
disorders that appear after birth, often later in life. These tests can be helpful to people who have a
family member with a genetic disorder, but who have no features of the disorder themselves at the
time of testing. Predictive testing can identify mutations that increase a person's risk of developing
disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can
determine whether a person will develop a genetic disorder, such as hereditary
hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of
predictive and presymptomatic testing can provide information about a person’s risk of developing a
specific disorder and help with making decisions about medical care.
PRENATAL TESTING
Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This
type of testing is offered during pregnancy if there is an increased risk that the baby will have a
genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's
uncertainty or help them make decisions about a pregnancy. It cannot identify all possible
inherited disorders and birth defects, however.

FORENSIC TESTING
Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests
described above, forensic testing is not used to detect gene mutations associated with disease.
This type of testing can identify crime or catastrophe victims, rule out or implicate a crime
suspect, or establish biological relationships between people (for example, paternity).
DIFFERENCE B/W
GENETIC AND
GENOMICTESTING

The terms "genetics" and "genomics" are often used interchangeably but, in fact, they are different.
Our genetics (genes) are inherited at birth and will pass through generations. They explain why a
person has dark skin, blue eyes or red hair. In the cancer world, genetic testing looks for certain
genetic mutations a person may have inherited through his or her family that may increase the
chances of that person getting cancer.

For example, if a woman has a family history of breast cancer, she may want to consider genetic
testing for the BRCA1 gene. Those who test positive for the BRCA1 gene have a higher chance of
developing breast cancer.

Genomic testing, on the other hand, looks more closely at the cancer genes themselves, as well
as their behaviors. Genomic testing can help determine why a tumor behaves the way it does,
including how aggressive a cancer can be and whether the cancer has a higher chance of
spreading to other parts of the body.

Understanding how the cancer is likely to act can help suggest a path to better treating the cancer.
For example, if your provider sees that a mutation matches a known cancer cell defect, they may
suggest a certain targeted therapy designed to attack that defect without causing harm to normal
cells. This can have a positive impact on a person's cancer care.
GENETIC TESTING
IN BREAST
CANCER

Three of the most well-known genes that can mutate and raise the risk of breast and/or ovarian
cancer are BRCA1, BRCA2, and PALB2. Women who inherit a mutation, or abnormal change, in
any of these genes — from their mothers or their fathers — have a much higher-than-average
risk of developing breast cancer and/or ovarian cancer. Men with these mutations have an
increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of
prostate cancer.

Many inherited cases of breast cancer have been associated with mutations in these three
genes. When a strong family history of breast and/or ovarian cancer is present, there may be
reason to believe that a person has inherited an abnormal gene linked to higher breast cancer
risk. Some people choose to undergo genetic testing to find out.

A genetic test involves giving a blood or saliva sample that can be analyzed to pick up any
abnormalities in these genes.

Genetic testing gives people the chance to learn if their breast cancer or family history of breast
cancer is due to an inherited gene mutation and if they are at high risk of developing breast
cancer if carrying mutated gene and/or genes.

It's strongly recommended you speak with a genetic counselor (or other health care provider
trained in genetic counseling) before deciding whether to be tested for BRCA1, BRCA2 or other
inherited gene mutations.
WHO SHOULD CONSIDER TESTING?
Genetic testing is only recommended for certain people with a high risk of having
a BRCA1/2 and/or PAL2 gene mutation, including those with:
 A family member with a BRCA1/2 gene mutation (or other inherited gene mutation
linked to breast cancer)
 A personal history of breast cancer at age 45 or younger
 A personal history of bilateral breast cancer (cancer in both breasts)
 A personal history of triple negative breast cancer (breast cancer that is estrogen
receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at
age 60 or younger
 Ashkenazi Jewish heritage and a personal history of breast cancer
 A personal history of breast cancer at age 46-50 and a close family member (parent,
sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin)
diagnosed with breast cancer or aggressive prostate cancer at any age
 A personal history of breast cancer at any age and a close family member diagnosed
with breast cancer at age 50 or younger
 A personal history of breast cancer at any age and 2 or more close family members
diagnosed with breast cancer at any age
 A personal history of breast cancer at any age and a close family member diagnosed
with pancreatic cancer or metastatic prostate cancer at any age
 A close family member diagnosed with breast cancer at age 45 or younger
 A personal or family history of ovarian cancer, pancreatic cancer, aggressive prostate
cancer or metastatic prostate cancer
 A personal or family history of male breast cancer
RESULTS OF GENETIC TESTING
Genetic test results show whether there’s a mutation related to breast cancer in
the BRCA1, BRCA2 or other gene that increases risk.
There are 3 possible results:

No variant or a benign variant (the test is negative, the results are normal).
The test shows no gene mutations linked to breast cancer.

A pathogenic variant (the test is positive).

The test shows a gene mutation linked to breast cancer.

A variant of uncertain significance (VUS).

The test shows a mutation not currently known to increase breast cancer risk.
A VUS test result is confusing. Health care providers don’t know what to do with the findings
since it’s unclear whether or not a person with a VUS has an increased risk of breast cancer.
BENEFITS OF GENETIC TESTING FOR BREAST CANCER
 Identify at-risk individuals and family members, counsel on the underlying causes of the
pattern of cancers in the family. Exclude family members with decreased risk.
 Perform the enhanced screening for mutation carriers and family members to significantly
improve medical outcomes: cancer surveillance and mortality. Reduce the medical costs
through earlier diagnosis and treatment of cancers.
 Optimize cancer risk assessment, prevention, diagnosis and treatment of cancers in BRCA
mutation carriers. Avoid unnecessary tests and procedures for family members.
 Make medical and lifestyle decisions based on genetic background.
 Make proactive decisions regarding risk-reducing surgical treatment, preventive
chemotherapy or fertility preservation for high-risk population.
COST OF
GENETIC
TESTING

Testing for abnormal breast cancer genes such as BRCA1, BRCA2, and PALB2 is usually

done on a blood or saliva sample taken in your doctor’s office and sent to a commercial
laboratory or a research testing facility. Most people have it done by a commercial lab.
During testing, the genes are separated from the rest of the DNA, and then they are scanned
for abnormalities.

In the United States, several laboratories perform commercial BRCA1, BRCA2,

and PALB2 testing, including Myriad Genetic Laboratories, Ambry Genetics, and GeneDx.
They report results within 2 to 4 weeks. Abnormalities in other genes have also been

associated with breast cancer risk. BRCA1 and BRCA2 mutations are the most common
cause of hereditary breast cancer. Right now, PALB2 and other breast cancer gene
abnormalities appear to be a less common cause of breast cancer, although testing for many

of these genes is now also available. People choosing to undergo genetic testing may
choose to be tested for only the BRCA1 and BRCA2 genes or to have multiple breast

cancer-related genes tested together through a panel test. The cost of testing ranges from

approximately $300 to $5,000, depending on whether you are being tested for only a specific
area(s) of a gene known to be abnormal or if hundreds of areas are being examined within
multiple genes.
GENETIC
TESTING IN
INDUSTRIES

Lab Name Panel Single Site Brca1/2 Cost Web Link

Ambry Yes Yes Yes On Requset [Link]

Genetics
Blueprint Yes Yes No On Requset [Link]
Genetics
Color Yes No Yes $249 [Link]
Genomics
Fulgent Yes Yes Yes On Requset [Link]
Diagnostics
GeneDX Yes Yes Yes On Requset [Link]
Invitae Yes Yes Yes $250 [Link]
Medical Yes Yes Yes On Requset [Link]
Diagnostics
Myriad Yes Yes Yes $4000 [Link]
Genetics
Prevention Yes Yes Yes $540 [Link]
Genetics
Quest Yes Yes Yes On Requset [Link]
Diagnostics
Sema4 Yes No Yes On Requset [Link]
Genomics
Lifelabs Yes Yes Yes $600 [Link]
genetics
GENETIC
TESTING IN
PAKISTAN

LABNETICS
A genetic testing lab in Pakistan offers a wide array of genetic services ranging from
diagnostic genetic testing tests and counseling as well. The genetic screening and testing
services include:
 Prenatal testing or Non-Invasive Prenatal Testing
 Carrier Genetic Test
 Whole Exome Sequencing
 Single Gene Disorder
 Oncology Genetic Screening Tests
 Preimplantation Genetic Diagnosis (PGD) & Preimplantation Genetic Screening (PGS
 Products of Conception (POC) test

Contact: [Link]@[Link]
REFERENCES

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experts-what-is-the-difference-between-genetic-and-genomic-testing
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cancer/genetic-testing/basics/[Link]
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