Genetic Testing

Part
01
of two
Part
01

BRCA Genetic Testing

Our research team identified GeneDx, Ambry, Invitae, Color Genomics, Quest Diagnostics, Bio-Reference Labs, and Gene By Gene as companies headquartered in the United States offering BRCA genetic testing targeting health care providers and health care institutions.

METHODOLOGY

To identify seven firms that offer BRCA genetic testing in the United States, we conducted a press search for genetic companies similar to Myriad Genetics. According to STAT news, a media company focused on "telling compelling stories about health, medicine, and scientific discovery," Myriad was the pioneer of these tests and held a monopoly in the BRCA testing market until 2013, "when the US Supreme Court invalidated the company’s key patents." Right away, competitors began emerging and offering the tests for a lesser price than Myriad. Some competitors mentioned here include GeneDx, Ambry, Invitae, and Color Genomics. Additionally, Investor's Business Daily states that Quest Diagnostics and Bio-Reference Labs are other competitors to Myriad in the breast-cancer (BRCA) gene test market.
Next, we checked their official websites to determine the constituents they target with their marketing. However, since most of the companies in this market do not focus on disclosing their end market, our team had to be creative. If the tests are only available or can be done in a clinical setting or laboratory, we concluded that a firm offers its test products to physicians or large health care institutions. Additionally, the first direct-to-consumer test for BRCA was just recently (2018) approved by the Federal Drug Authority (FDA), and because the companies identified above had been in operation prior, we arrogate that their BRCA genetic tests target physicians or large health care institutions.

GeneDx

GeneDx BRCA genetic test checks for two disorders: the BRCA1/BRCA2 breast cancer gene mutations and ovarian cancer.
The product is available for physicians or health care providers.

Ambry

Ambry BRCA genetic test checks for hereditary breast and ovarian cancer produced by germline BRCA1/BRCA2 mutations.
The product is available for physicians or health care providers.

Invitae

Invitae BRCA genetic test checks for hereditary breast and ovarian cancer syndrome arising from BRCA1 and BRCA2 mutations.
The product is directly marketed to healthcare providers.

Color Genomics

Color’s Hereditary Cancer Test is used to check for hereditary and familial cancer & sporadic cancer caused by BRCA1 mutation and APC mutation respectively.
The product is directly marketed to healthcare providers.

Quest Diagnostics

Quest Diagnostics' BRCAvantage Test "menu, include BRCA1 and BRCA2, and expanded testing for significant breast cancer susceptibility genes."
This BRCAvantage Test is directly marketed to physicians and hospitals.

Bio-Reference Labs

Bio-Reference Labs BRCA genetic test checks for hereditary breast cancer caused by BRCA1 and BRCA2 genes.
The company markets to physicians, correctional health facilities, federally qualified health centers, and hospitals.

Gene By Gene

Gene By Gene Testing is for the detection of BRCA1/2 mutations in breast and ovarian cancer.
Gene By Gene directly markets to health professionals.
Finally, other companies that offer BRCA test targeting only patients are the Mayo Clinic and Foundation Medicine.

Note: All the companies are headquartered in the United States.

Part
02
of two
Part
02

Pre-Pregnancy Genetic Testing

Eight companies that offer pre-pregnancy genetic testing, often known as carrier testing, are Myriad Women's Health, Integrated Genetics, Insight Medical Genetics, Natera, ActX, Invitae, Quest Diagnostics, and Progenity. All of these companies were confirmed to have their headquarters in the Unites States and to market their tests directly to physicians and medical facilities.

Myriad Women's Health

Myriad offers the Foresight Carrier Screen that allows couples to determine if they are at risk for passing down serious conditions to future children. According to the website, the tests can be sent directly to patients after receiving required approvals from their doctor, or doctors can offer the services to their patients in office. The test covers more than 175 genetic disorders. A link on the company website allows doctors/medical facilities to express interest in offering the products at their office.

Integrated Genetics

Integrated Genetics offers carrier screening for couples considering getting pregnant. The Inheritest includes over 110 disorders, but the company also offers single gene tests. There are both direct-to-consumer and provider test options available. Doctors can get more information directly on the website or can contact the company directly.

Insight Medical Genetics

Insight Medical Genetics offers carrier screening direct-to-consumers as well as by partnering with doctors/medical facilities. The test looks for more than 160 genetic disorders that could potentially be passed down to a child. The mother is tested first, with testing for the father only happening if the mother's results come back showing risk. Physicians interested in offering Insight's services to their clients can reach out to the company for more information.

Natera

Natera markets their genetic testing products to both consumers and physicians, but does not appear to send tests directly to consumers. Rather, they provide a brochure for patients to bring to their doctor. The company's offering for preconception testing is called Horizon carrier screening and they test for 274 unique conditions. Natera offers various screening profiles based on the population being served, and also offers a la carte testing options.

ActX

ActX markets to both doctors and patients, but like Natera, does not send tests directly to patients without doctors being involved. The company provides both an authorization form and a brochure that patients can print out and bring to their doctors. Additionally, ActX markets directly to doctors with a page fully explaining how the partnership works, as well as providing the names of some customers including Yale NewHaven Health, The Vancouver Clinic, and St. Elizabeth Healthcare.

Invitae

Invitae offers several varieties of carrier testing, including the Comprehensive Carrier Screen which tests 287 genes. Screenings that cover fewer genes are also available and the tests are sold directly to physicians and medical facilities. As with some of the other companies provided here, Invitae does market directly to consumers, and encourages them to talk to their doctor about genetic screening, but does not provide direct-to-consumer testing.

Quest Diagnostics

Quest Diagnostics is a large provider of lab services that now include QHerit, a carrier screening test that looks for 22 conditions based on recommendations from medical organizations such as ACOG and ACMG. QHerit is designed to be ordered by physicians and is convenient for patients because of Quest's large network of labs. Although Quest does allow for patients to order some lab tests directly, QHerit is not one of them.

Progenity

Progenity offers the Preparent carrier screen which has several options available. The most comprehensive is the Global panel which screens for over 200 disorders. However, there are also options to screen for fewer disorders, or even a single disorder such as cystic fibrosis. There is no overt marketing to either physicians or patients on the website, and there is no way for patients to order tests directly. The website has a clinician portal where patient results can be viewed, which indicates the testing is done through a doctor's office.
Sources
Sources

From Part 02
Quotes
  • "Our scientific team continually reviews the Myriad Foresight® Carrier Screen to include DNA mutations that are clinically useful and can be reported with > 99.9% accuracy. Our couples reporting feature allows you to screen both members of a couple at the same time and receive one combined report."
Quotes
  • "The American Congress of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG) currently have guidelines related to screening for mutations for more than a dozen specific conditions."
Quotes
  • "Selected to focus on severe disorders of childhood onset, and to meet ACOG and the American College of Medical Genetics and Genomics (ACMG) criteria, many of the disorders share a recommendation for early intervention."
Quotes
  • "Consequently, it is important to be informed about your personal and family health history before meeting with your genetic counselor. However, due to the randomness of genetic mutations, genetic syndromes usually occur in families with no previous history. In fact, 80% of children born with genetic diseases have no family history of the condition."
Quotes
  • "Natera® is driven by a passion for improving the path to parenthood with a suite of high-quality products that support families in their journey from preconception, to pregnancy, and birth."
Quotes
  • "ActX makes it possible for your health care provider to personalize your health care using genetics; we provide actionable clinical information to both health care providers and their patients. Your health care professional can tell you if ActX is right for you. We do not provide this test to patients who have not been authorized by a licensed health care provider, although we are happy to provide you with materials to bring to your provider."
Quotes
  • "QHerit is supported by a network of MDs and other medical professionals for test and results consultation, and patients can conveniently visit any one of our 2,200 Patient Service Centers across the U.S. for testing."
Quotes
  • "While many women already know to consume a balanced and nutritious diet, take prenatal vitamins, and get adequate exercise during pregnancy, they may not realize that knowing their genetic carrier status is one of the most important things they can to do prepare for parenthood."