Genetic Testing, Part 2

Part
01
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Part
01

Natera

Natera uses various platforms to reach out to physicians about its genetic testing services. Some of these include direct sales representatives and online platforms that provide physicians with access to additional insights into genetic screening and the Conversation Starter document. Natera also uses industry related trade shows, conferences and clinical journals to interact and create awareness about its products to physicians. Below is a methodology that we used in this research.

METHODOLOGY

We started the research by checking for information from the official company website whereby we focused our attention on physician interactions around carrier screening and genetic testing. Based on this strategy, we established that the company has a page and the Conversation Starter document that are dedicated to helping physicians gain knowledge on the carrier testing services that are offered.

The next strategy was to check in the annual reports of the company. Based on this resource, we established that the company uses direct sales representatives to interact with physicians. Additionally, there was information that the company uses various platforms to reach out to physicians such as educational webinars, clinical journals, trade-shows and conferences.

Our final strategy was to check the social media pages belonging to the company. However, while the company has an active presence on various social media platforms including Facebook, Twitter, LinkedIn and YouTube, the messaging and content on these platforms are directed at patients and not towards physicians. Their main messaging involves providing information on genetic testing and the importance of why patients should talk to their doctors about carrier screening.

HOW INTEGRATED GENETICS INTERACT WITH PHYSICIANS AROUND ITS PRE-PREGNANCY GENETIC TESTING SERVICES

NATERA’S HORIZON

The advanced carrier screen by Natera is Horizon, which was launched in 2012. Horizon evaluates the status of patients and checks for about 274 x-linked and autosomal recessive genetic conditions. As such, the device helps to screen couples to check if they are carriers of genetic mutations which can lead to other diseases in future. Once a physician orders a test and sends the samples, results are obtained within 10-15 days.

INTERACTIONS WITH PHYSICIANS

Natera interacts with physicians on several platforms. The first is online platforms. The Natera website is the primary tool for physician interaction since it contains ‘Frequently Asked Questions’ and ‘Help’ pages on what physicians should do in case their patients are carriers, whether they are pregnant or not. Additionally, there is a Conversation Starter document that can be downloaded by physicians on their websites. Patients can also download it and forward it to their physicians. The document provides further insight into genetic screening and has contact details that can be used by physicians to order screening services for their patients. Physicians can also access an online portal which provides more insight into genetic testing which helps them to discuss genetic screening with their patients.

The second platform for interaction between Natera and physicians is through direct sales representatives. The company has a team of 150 representatives whose role is to interact and sell the genetic screening products directly to physicians. Some of the targeted parties include IVF centers, physicians or physician practices, MFMs, OB/GYN and Integrated Health Systems.

The final platform for interaction between physicians and Natera include educational webinars, trade shows, conferences and clinical journals. All these platforms provide an opportunity for the company to interact with physicians and deliver messaging about the genetic screening product.

Part
02
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Part
02

Integrated Genetics

Integrated Genetics provides screening information for both patients and physicians on their website. For pre-pregnancy patients, they provide carrier screening tests as the main service. Carrier screening can be either through Inheritest or Single-gene screening. Information about these tests is provided to physicians through the 'Providers' section of the website. Apart from the website, Integrated Genetics interacts with physicians through printed media and social media.

Website

Their website seems devoid of taglines on all their pages, even the front page. Their content is very much to the point and pushes to educate and inform the patient and the physician. One of the most useful pages is their services page, which shows physicians all the services that they provide which they think can help them with many things surrounding genetic testing. One of these services is their genetic counseling, where they provide counselors to talk directly to patients with positive results to help them answer tough questions. Information on these services is written in an assuring way, to show the doctor that even though it is not a core service, it is still important and that it provides value to their purchase. We see this with the Billing service section, where they assure physicians that they only need to take care of their patients and that they can leave billing and health insurance processes to them. They even offer other options for patients who need financial assistance.

The company ensures that they catch the eye of OB/GYNs by mentioning the American Congress of Obstetricians and Gynecologists (ACOG). They then proceed to say that this organization currently has guidelines related to screening for mutations for more than a dozen conditions, and follows that up by promoting Inheritest and their single-gene tests. To show how comprehensive their offerings are, they then list the four panels that are part of Inheritest: Comprehensive, Ashkenazi Jewish, Society-Guided, and Core. For the single-gene tests, they list out cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. On the Inheritest page, they quote ACOG to say spinal muscular atrophy and cystic fibrosis screening "should be offered to all women who are considering pregnancy or are currently pregnant." They use this to promote Inheritest in the next paragraph and say that they provide screening for more than 110 severe disorders. Using a trusted body for OB/GYNs is a messaging ploy to offer more validity to what they're doing.

At the bottom of the Inheritest page, we see three graphics with links: Understand costs, About results, and Genetic counseling. Each link goes to the Services page that we discussed earlier. These same links can be found at the bottom of the single-gene tests page too. On the webpage for single-gene screening tests, they list out many diseases and syndromes that they test for including Cystic fibrosis, Canavan disease, Bloom syndrome, Gaucher disease, Usher syndrome, glycogen storage disease, etc. Under each disease, they have links for information about the disorder and details about the tests, including instructions, methodologies, requirements, causes for rejections, and limitations.

The company also interacts with physicians by providing ways in which they can order their tests and supplies in a seamless way. They have a page that shows physicians how they can do just that. They show that they can access patient results online, and list out pros and features such as the ability to save and print PDFs of results. At the bottom of the page they ask "Questions about costs and health insurance coverage?" and go on to promote their ability to handle patient's billing and health insurance questions. With the frequency that these links appear, the messaging seems to be that they want all physicians to use these extra services.

Finally, the company's About page talks about their history and the kind of testing that they do. They also list out events that they will be attending, and most of these events are those put on by medical associations. Seeing this, this page may very well be meant for physicians as a normal person would not be interested in attending these events. Also, they have links to their labs and offices on this page and links to their publications and posters, which can be found in the Providers section of the site as well.

Print

Integrated Genetics provides a webpage with all the resources that physicians can print out. The papers that they provide are usually derived from their own publications or from slides that they used in presentations. For instance, there are slides and papers from the 2019 American College of Medical Genetics and Genomics (ACMG) meeting. These slides and papers are academic in nature, full of graphs and statistics that can help physicians make informed decisions regarding their genetic testing.

On their Carrier Screening page, they have a link to "Download Brochure". These brochures are to be used by physicians to help explain all of these tests to their patients. Once these things are explained, they provide Informed Consent Forms, which are filled out by patients to say that they are well informed of the risks and benefits of the procedure. On the page that these forms can be found, the company uses the word 'critical' to describe these forms, which impresses upon the physician that they need to download them.

For every test that they offer, they offer one or more reports for physicians to read and be informed of the procedures, errors, test results, etc. InheriTest, for instance, is the subject of 8 reports. The content is there, and on this page, Integrated Genetics is trying to convey to physicians that there is basically no question that they have that can't be answered by one of their printed materials.

Social Media

The social networks that Integrated Genetics posts on include Facebook, Twitter, and Linkedin. They are on other social networks like Pinterest and Instagram as well. Unlike their website, their social media pages have taglines in their bios. On Facebook and Twitter, users can see "Trusted 1 million times over #MaterniTMILLION". It is a tagline and a cover image on both Facebook and Twitter, and on their Linkedin page, the tagline is just seen in the banner image. This tagline seems to be promoting their MaterniT GENOME testing kit and doesn't seem particularly aimed at physicians. However, in terms of content, their social network pages are like their website in that the content they put in each post is straight and to the point.

Each post on all social media platforms has text with a picture that is somewhat in the same context as the text. On Twitter and Facebook, these posts have language that is clearly directed towards the patient or are vague enough to apply both to the patient and the physician. Even though they have similar posts across Facebook, Twitter and Linkedin, their messaging is different on Linkedin. There, many posts have language that seems to be aimed at physicians. On Linkedin, when the post has a picture of a doctor and a patient, the post would often be geared towards the physician, while on Facebook and Twitter, that same post would be aimed at the patient.

With this particular example, the Linkedin post asks physicians if they are aware of the implications of a carrier disease such as cystic fibrosis. After that question, they then tell the physician that they should educate their patients and arm them with information with their Inheritest carrier screening. Another example is their most recent Linkedin post, which is aimed at physicians. It starts out by saying "May is Cystic Fibrosis Awareness Month." They then continue to promote their Inheritest Comprehensive Panel by saying it can detect more than 110 disorders, and also shows physicians that they have a network of genetic counselors that can help them educate their patients to understand their genetic risks). The Twitter equivalent uses very vague language and seems to target both patients and physicians. On Facebook, the post is much more verbose, detailing what cystic fibrosis is and the statistics behind it. However, they transition to pitching Inheritest to people who are pregnant or planning to become pregnant.


Part
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Part
03

Myriad Women's Health

In reference to our findings, Myriad Women's Health offers a pre-pregnancy testing service to couples that are considering pregnancy through the Foresight Carrier Screening product. The messaging and content of this product towards physicians mainly revolves around the product's benefit to patients and their families and the encouragement of physicians to offer the product to their patients. A detailed look at the Foresight Carrier Screening product in terms of messaging and content follows below.

MYRIAD WOMEN'S HEALTH INTERACTION WITH PHYSICIANS AROUND ITS PRE-PREGNANCY GENETIC TESTING SERVICES

Myriad Women's Health's official website has two sections i.e. one section for patients and another one for providers (physicians). The providers section of the website contains a wealth of information for physicians in regard to carrier screening for various conditions. For this purpose, Myriad Women's Health offers three different carrier screening products i.e. Foresight Carrier Screening, Prequel Prenatal Screening, and myRisk Hereditary Cancer Test.

The product that is targeted at couples that are considering pregnancy is the Foresight Carrier Screening product. Myriad's website has a lot of content, messaging, and educational material under this product that is targeted at physicians so as to enable/encourage them to offer Myriad Women's health products in their operations.

FORESIGHT CARRIER SCREENING PRODUCT MESSAGING

MYRIAD'S WEBSITE MESSAGING
Myriad's messaging to physicians in regard to the Foresight Carrier Screen product is generally on the benefits of this product to couples that are considering pregnancy i.e. "the Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions."
The company's messaging also points out reasons on why physicians should offer the Foresight Carrier Screening product using taglines such as "Utmost confidence in every result, Let’s make expanded carrier screening (ECS) routine, and Maximizing detection rates through technology."
To encourage physicians into offering its products, Myriad uses a positive tone in its messaging to illustrate how its carrier screening services empower patients by giving them advanced knowledge that can be the difference in their health outcomes and how its Foresight Carrier Screening product maximizes the detection of a pregnancy that will be affected by inherited conditions for at-risk couples. Myriad also points out how it offers seamless support and services that make it easy for physicians to integrate the company's genetic screening services into their practices.

In addition, Myriad's messaging on its website also points out to physicians how the "Foresight Carrier Screening product maximizes disease detection rates for the diseases that matter the most" through:


Myriad's messaging also includes the panel design that the company used in carrier screening to identify the more than 175 diseases for the Foresight Carrier Screening product that has been presented for the consumption of physicians. According to the company's website, this process is divided into four stages:

By using Myriad's Women’s Health’s testing methodology, the company can identify "30% more pregnancies affected with cystic fibrosis or spinal muscular atrophy." Myriad especially focuses on these conditions because "universal carrier screening for cystic fibrosis and spinal muscular atrophy is recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG)."
WHY EXPANDED CARRIER SCREENING (ECS)
The messaging that Myriad presents to physicians also features the disadvantages of offering carrier screening with a basis on family history or ethnicity as this could lead to missing affected pregnancies for serious conditions. This has been well presented by Myriad in the form of numeric data points as follows:


The data points presented above point physicians to the weaknesses of performing carrier screening with a basis on family history or ethnicity and further point to the strengths of the Myriad's Foresight Carrier Screening product that is more thorough and efficient in detecting a wide range of possible conditions that can affect couples who are considering pregnancy.
Myriad's website messaging further points to the fact that "ACOG recognized ECS as an acceptable screening strategy" and offering ECS routinely regardless of family history or self-reported ethnicity as having the potential of improving the outcomes for all patients. This is illustrated by the fact that approximately "1 in 300 pregnancies are affected by a condition that is screened by the Myriad Foresight Carrier Screening (ECS)."

By using this kind of messaging in its website, Myriad is trying to show physicians that the Foresight Carrier Screen product is well recognized and approved by health associations and it also comes with a wealth of benefits for patients.

MYRIAD'S WEBSITE CONTENT
In terms of content i.e. informational and educational material, Myriad offers a range of downloadable clinical resources for use by physicians. These include a :


These resources are meant to further provide physicians with a practical look at the clinical resources on offer from the company that they can use for educational purposes such as the sample reports and disease resources.

TESTIMONIALS
Myriad's messaging also includes a testimonial from a patient who benefited from the Foresight Carrier Screen product i.e. "The Foresight Carrier Screen gives you information that’s really important to the future of your family."

This testimonial was most probably aimed at physicians to encourage them into offering Myriad's services because just above the testimonial is a button titled "GET STARTED TODAY - OFFER MYRIAD WOMEN'S HEALTH AT YOUR CLINIC."

MYRIAD'S COMPLETE PRODUCT

Myriad Women's Health also offers the Myriad Complete product that "helps to seamlessly integrate expanded carrier screening into the practice workflow of physicians." The Myriad Complete product comes with:

EDUCATION
When physicians choose to offer "Myriad Women’s Health screening, they receive access to educational resources for both their practice and patients through the Myriad Complete product." The education part of the product helps physicians on how they should explain genetic screening to patients.
To this effect, Myriad's messaging stipulates that "At Myriad Women’s Health, we provide support throughout the genetic screening process. Whether you are most comfortable presenting information on Myriad’s screens and tests in person using visual aids or having your patients review materials before their appointments — we’ve got it covered." This extract is clearly targeted at physicians and aims to encourage them by showing that Myriad offers support services through educational and informational content.
Myriad provides physicians with a variety of educational resources that will help them explain carrier screening to their patients at every stage. According to Myriad, the educational material was developed by a team of experts that included board-certified genetic counselors, to ensure "the material reflects industry best practices and helps patients to easily understand the benefits of genetic screening with Myriad Women’s Health." The educational materials on offer include pre-visit, in-office, and take-home materials that can be used by physicians, their staff members, and patients.
In addition, Myriad also offers to physicians and their staff professional development resources and on-demand support so as to simplify conversations with patients on genetic screening and testing. The provider education resources on offer includes:

SOCIAL MEDIA MESSAGING AND CONTENT

Myriad Women's Health has an active social media presence of YouTube and Twitter. In these social media accounts, the company has mixed content and messaging that targets both patients and physicians.
YOUTUBE
On YouTube, Myriad has grouped its content into various playlists as per the company's products i.e. Myriad Foresight Carrier Screen, Myriad Prequel Prenatal Screen, and Myriad Complete. In the Myriad Foresight Carrier Screen playlist, there is content on the introduction of the service, what the service is all about, and a significant amount of patient stories. This content which is primarily targeted at physicians is very similar to what is in the company's official website that we have covered in detail above with the only difference being that it is presented in the form of videos.

TWITTER

On Twitter, the content that is relevant to pre-pregnancy genetic testing services is either in the form of a link to the company's YouTube page or the company's official website. Consequently, a majority of what is presented on Myriad's Twitter page has already been covered by the main messaging and content material section which was primarily based on the company's official website.

DIFFERENCES IN MESSAGING FOR GENERAL OB-GYNS AND FERTILITY SPECIALISTS

After our exhaustive research process around Myriad's Foresight Carrier Screening, which is the product that the company markets to physicians as its pre-pregnancy genetic service, there was no contrasting information for general obstetrician-gynecologists (OB-GYNs) as compared to fertility specialists. All messaging and content that the company has presented in its Foresight Carrier Screening product is generally meant for both general OB-GYNs and fertility specialists in equal measure because there are no contrasting differences in the presented information.
Part
04
of six
Part
04

Quest Diagnostics

Quest Diagnostics interacts with physicians around its BRCA testing services through its exclusive website for cancer testing solutions, genetic counselors over the phone, its Pharmacogenomics Panel, and its live webinar.

QUEST DIAGNOSTICS INTERACTION WITH PHYSICIANS-BRCA TESTING SERVICES

WEBSITE INTERACTIONS:

CONTENT:
Quest Diagnostics interacts with physicians around its BRCA testing services by providing information on how to understand the results, hereditary cancer, testing options, genetic counseling, and also some education resources through a separate website that is exclusive to cancer testing solutions. It has FAQs and educational resources to help physicians have conversations around genetics with their patients. Physicians can also interact with the company's genetic counselors over the phone from Monday to Friday.

MESSAGING:
There are no taglines focused on physicians concerning BRCA testing services.

PRINT MATERIALS:

CONTENT:
Quest Diagnostics guides physicians around its BRCA testing services using Pharmacogenomics Panel, which helps to optimize treatment, as it includes information on 280 drugs across 44 genes. Pharmacogenomics Panel guides physicians in avoiding adverse drug reactions, ER visits, and fatalities. Quest Diagnostics offers educational materials for physicians around its BRCA testing services to understand results, deliver/explain results, and any risks associated with the test.

MESSAGING:
Quest Diagnostics promoted Pharmacogenomics Panel with a messaging focused on physicians: "knowing the possibilities for effective treatment."

SOCIAL MEDIA INTERACTION:

Quest Diagnostics is active on Twitter and Facebook.

CONTENT:
Quest Diagnostics, via Twitter, is currently promoting a live webinar on BRCA testing services for guidance to physicians on the risks associated with the test, and to get understanding on results. Although the company has a Facebook page, it is not actively interacting with physicians about genetic testing.

MESSAGING:
Its messaging on Twitter for promoting the live webinar on BRCA testing services is "Genetic Testing: When should you consider testing beyond BRCA?"

Part
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Part
05

Invitae

Invitae interacts with physicians around its BRCA testing services by means of social media channels, presentations, research papers, symposiums, clinical resources, and scientific publications. Invitae also provides physicians with educational material for patients. Invitae believes that by having a network of connected physicians, they can learn from each other on a regular basis. Physicians are encouraged to consult scientific publications, posters, journals, and case studies related to BRCA testing services.

Means of interaction with physicians — Invitae

#1: Presentations and research papers

Invitae provides physicians with a wide range of resources that include peer-reviewed papers, posters, and presentations. The genetic testing company is committed to sharing their collection of resources and material with physicians, encouraging them to keep learning to improve the quality of testing and medicine. To spread awareness on the subject, Invitae also conducts symposiums, inviting physicians and experts alike to participate. In 2018, Invitae conducted the BRCA Symposium in Montreal, Canada, and the San Antonio Breast Cancer Symposium (SABCS) in San Antonio, Texas.
Some of their recent scientific publications that relate to BRCA testing are “BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2”, “Consistency of BRCA1 and BRCA2 variant classifications among clinical diagnostic laboratories, and “Low-level constitutional mosaicism of a de novo BRCA1 gene mutation”. Examples of posters that relate to BRCA testing are “Expanded panel testing superior to BRCA1/2 and breast cancer panel in patients with breast cancer” and “Findings beyond BRCA1/2 impact management of hereditary breast and ovarian cancer families”. Examples of presentations related to the subject are “Utilization of pathogenic mutations beyond BRCA1/2 in breast cancer patients up to 36 months post-testing” and “Medicare patients who do not meet criteria for BRCA1/2 genetic testing have similar rates of clinically actionable findings as those who do meet criteria”. The presentations, posters, and scientific publications are generally presented at symposiums held by Invitae.
For quick-access information, Invitae provides physicians with clinical resources which include genes and associated cancers chart, hereditary cancer gene list, hereditary cancer risks and references chart, Invitae brochures, and test information (specimen requirements). Physicians can download the presentations, posters, scientific papers, and clinical resources from Invitae’s official website.

#2: Social Media Platforms

It was found that Invitae publishes scientific data associated with cancer and BRCA testing findings on social media channels such as Twitter. For example, the head of clinical affairs at Invitae, Steve Lincoln, presented a significant intra-laboratory study on the detection of complex variants at the BRCA Symposium held in Montreal, in 2018. This study along with other posters, presentations, findings, and featured speakers for symposiums over the years have been posted on Twitter with the tag “#BRCASYMP”.
In 2018, Steve Lincoln and Erin O’Leary (Clinical Cancer Genetics at Invitae) were the key speakers who participated in the Happy Hour Talk that was held in Montreal, Canada. The event was organized as an educational discussion conducted by experts on the subject of “Hereditary Breast and Ovarian Cancer” at the Seventh International Symposium. Advertisements and posters on the subject were posted on their Twitter page. Posters, news, videos featuring speeches by experts, and links that redirect a viewer to educational material are posted on social media channels such as Twitter and Facebook.

#3: Invitae provides physicians with tools for communicating with patients

Invitae provides physicians with the test descriptions that analyze BRCA1 and BRCA2 genes associated with HBOC (Hereditary Breast and Ovarian Cancer Syndrome) on their website. Physicians are informed of the procedure of ordering the BRCA tests and offers additional information on the sample requirements, turn-around time, information on the preferred specimen, and alternative specimens.
The company also provides physicians with educational material for patients to help them understand the procedure, results, and answer general questions. These resources include genetic testing for hereditary cancer, a simplified guide on genetic testing, hereditary breast cancer, and hereditary colorectal cancer. ‘Genetic testing for hereditary cancer’ provides information on the procedure of genetic testing and how it works. ‘Hereditary breast cancer’ and ‘hereditary colorectal cancer’ provides a detailed explanation about these specific cancers to patients.
Invitae provides physicians with educational material that helps them have conversations with their patients around genetics. The company does so by means of brochures, videos, and letters for family members. Some of Invitae’s brochures are available in Mandarin, French, Portuguese, and Spanish. Their collection of videos answer questions such as “Who should see a genetic counselor?”, “What does a genetic counselor do with my family history?”, and “Why is it important to know my family history?”.

Part
06
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Part
06

GENEDX

GeneDx was formed with the objective of addressing the needs of patients with rare disorders. It is a member of ENIGMA, a consortium that is focused on establishing the clinical significance of sequence variants within BRCA1 and BRCA2 genes. However, there is no information on how GeneDx interacts with physicians around its BRCA testing services. Below is a methodology that was used in an attempt to get this information.

METHODOLOGY

The first strategy was to check in the official company website to check for messaging or interactions that are directed at physicians. However, the website only contained educational resources related to BRCA testing, the number of MDs/PhDs and genetic counselors employed by the company, BRCA precertification forms for BRCA testing, information on the company’s collaboration with ENIGMA, patient resources, and AETNA and United Healthcare (UHC). The company also has a portal that can be accessed by physicians, although this is used to check for all orders placed through their names, but there was no specific interaction between the physicians and the company to BRCA testing. GeneDx has also provided a list of symposia, workshops, and presentations on its website. An example of one such presentation is Triple Negative Breast Cancer-an Indication for Testing Beyond BRCA1/BRCA2. While this presentation was important, it was not only directed to physicians and could be accessed by everyone. Finally, the company profile on the website states that it offers genetic testing services, which helps to address the needs of patients who have been diagnosed with rare disorders and clinicians treating these conditions. There is no mention of the physician interactions around BRCA testing.

The second strategy was to check the social media accounts of the company, such as Facebook and Twitter. While we found posts about the annual meeting of the company, exhibits relating to genetic testing and information about genetic counselor careers, there was nothing specifically targeted at physicians concerning its BRCA testing.

The third strategy was to check for printed materials by GeneDx to check for educational content linked to physicians. In this case, we checked for magazines and publications by the company. However, we could not find any publications or magazines by GeneDx.

In conclusion, we could not find any direct interaction between GeneDx and physicians about its BRCA testing services. However, there was indirect interaction through patient authorization forms and participation in organizations that serve physicians interested in BRCA variant participations. The other interaction with physicians is in relation to its corporate structure, whereby it employs physicians. Similarly, the GeneDx portal was also used for physician registration and is not specifically used to relay information on BRCA testing.

HOW GENEDX INTERACTS WITH PHYSICIANS AROUND ITS BRCA TESTING SERVICES

HELPFUL FINDINGS

The company was founded by two scientists in 2000. The main objective was to address the needs of patients who have been diagnosed with rare disorders and clinicians treating them. GeneDx employs over 130 genetic counselors and 100 MDs/PhDs who are specialists in metabolic genetics, molecular genetics, clinical genetics, and cytogenetics.

Physicians are required to sign Aetna Prior Authorization forms for tests which include BRCA1 and BRCA2 genes. In the case of BRCA testing, UHC (United Healthcare) requires the prior authorization form since January 1st, 2016. Medical professionals that should fill out the form include:
  • Genetic counselor
  • Advanced genetics nurse
  • Genetic clinical nurse
  • Advanced practice nurse in genetics
  • A board-certified or board-eligible clinical geneticist
  • Physicians with cancer genetics experience (The experience involves the provision of cancer risk assessment regularly and receiving specialized training on cancer genetics).

GeneDx is an ENIGMA member. ENIGMA is a consortium that is focused on establishing the clinical significance of sequence variants within BRCA1 and BRCA2 genes. As such, GeneDx provides IRB approved research studies to enhance understanding of variants of uncertain significance in genes with a high likelihood of getting breast cancer.

GeneDx provides the following patient resources in relation to BRCA1/BRCA2:
  • Patient Resources
  • Bright Pink
  • Facing Our Risk of Cancer Empowered (FORCE)
  • GeneDx
  • National Cancer Institute

The GeneDx platform offers a secure web-based system that is used by physicians for various purposes. Some of these include:
  • Place electronic orders
  • Conduct automatic benefit investigations
  • Browse the test catalog
  • Check the status of GeneDx orders

The company encourages healthcare providers and their staff to register for the portal since it enables them to place orders under their names.

A presentation by GeneDx relating to BRCA testing: Triple Negative Breast Cancer – an Indication for Testing Beyond BRCA1/BRCA2. It was presented by Kristen Postula on November 16th, 2018 and was open to all individuals.

Sources
Sources

From Part 01
Quotes
  • "Horizon test results are generally returned to the ordering physician in ten to 15 business days from the day we receive the sample, depending on the number of conditions the patient has requested to be screened."
  • "Through our direct sales efforts and worldwide network of over 100 laboratory and distribution partners, we have established a broad distribution channel. Our own direct sales force and managed care teams, which include approximately 150 genetics-focused sales representatives, anchor our commercial engagement with physicians, laboratory partners, and payers, and sell directly to MFMs, OB/GYNs, physicians or physician practices, IVF centers, or integrated health systems."
  • "In addition to our sales force, we market to physicians through clinical journals, educational webinars, conferences, tradeshows and e-mail marketing campaigns"
From Part 04
Quotes
  • "Genetic counselors can be a valuable resource for you and your patients. If you have questions about which test is most appropriate for your patient or how to interpret your patient’s test results, our genetic counseling team is here to help. We are available Monday-Friday from 8:30 am to 8:00 pm EST by calling 1.866.GENE.INFO (1.866.436.3463)."
Quotes
  • "Physicians should consider ordering the Pharmacogenomics Panel"
  • "Prior to initiating patient treatment with a specifi c drug therapy • If a patient has started taking a drug and is experiencing side effects • If a patient is having trouble establishing and/or maintaining a stable dose of a drug"
Quotes
  • "Physicians receive test results in a comprehensive and easy to understand report that may include dosing guidelines from CPIC®, FDA-approved labeling, and other pharmacogenomic consortia. Results can be utilized as a reference for your patients throughout their lifetime."
  • "Quest Diagnostics offers one of the most comprehensive pharmacogenomics test panels available to help you gain insight into a patient’s potential response to medications and optimize their treatment considerations and outcomes. This includes information for over 280 drugs across 44 genes*"
From Part 06
Quotes
  • "At GeneDx, our technical services are backed by our unmatched scientific expertise and our superior customer support. Our growing staff includes more than 100 MDs/PhDs and 130 genetic counselors specializing in clinical genetics, molecular genetics, metabolic genetics, and cytogenetics."
Quotes
  • "GeneDx is a member of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) international consortium. ENIGMA is a consortium primarily focused on determining the clinical significance of sequence variants within the BRCA1 and BRCA2 genes. As an ENIGMA member, GeneDx provides clinical information for IRB approved research studies with the aim of better understanding variants of uncertain significance in genes shown to predispose to breast cancer."
Quotes
  • "Who can register for the GeneDx portal? Any healthcare provider, or staff in a healthcare office, may register for the portal. All users may place orders. Each person should have their own, unique login. Please do not register “for” someone else in your office."
  • "Does the physician I order under need to register for the portal? GeneDx recommends all providers who have an order placed under their name be registered and active in the GeneDx portal. If you work with a physician who does not wish to register, please contact your sales representative and we will provide a form for them to waive access."
Quotes
  • "GeneDx was founded in 2000 by two scientists from the National Institutes of Health (NIH) to address the needs of patients diagnosed with rare disorders and the clinicians treating these conditions. Today, GeneDx has grown into a global industry leader in genomics, having provided testing to patients and their families in over 55 countries."