An Overview of Genetic Testing in 2017


Concert Genetics is a company that has collected information on 69,105 Genetic Testing Units (GTUs) that are active and available for ordering as of March 2017. Of these, there are 59,531 that assay a single gene or analyte, 8535 that are panels which assay multiple genes or analyses, 959 exome or genome that assay the entire genome sequence, and 79 that are non-invasive prenatal tests. 



  • Every month, new GTUs are added to the market where an average of 10.6 new GTUs enter the market every day. 
  • Multi-gene/ multi-analyte panels are increasing at about 14% of compound yearly growth rate, which is two times as fast as the overall market.
  • More than 75% of the latest growth in the market is due to Next Generation Sequencing (NGS) tests.
  • The growth rate in genetic testing is rapid, causing everyone in the healthcare system to face continuous challenges keeping up with the pace of change.


  • BRCA1 / BRCA2 Testing

Number of panel testing products are categorized according to 27 different clinical indications to simplify the test selection and analytic process for those who work in the healthcare industry by enabling side-by-side comparison of GTUs.

  • The Top 5 Genes

According to Concert Genetics reports, the 5 most commonly assayed genes among all GTUs are TP53, KRAS, PTEN, BRAF, and CFTR genes. TP53 gene alone appears on more than 500 panels and 100 single gene GTUs. This highlights the challenge faces by healthcare professionals as one gene can have 400-600 different testing GTUs.

  • Exome Testing

The number of exome GTUs grew by 24% from 2016 to 2017. It has been reported that there is also steady growth in the number of targeted exome, custom gene, and big (>500) gene panels. 

  • Non-Invasive Prenatal Testing (NIPT)

There has been significant growth in the scope and types of NIPT tests in the market. It is predicted that there will be continuous growth in the future. Testing options for NIPT are increasing and getting more complex with more laboratories raising the scope of anomalies that can be detected by these tests. It can be confusing as one lab can perform many tests but marketed by more than one lab.

Clinical Workflow

  • Due to the fast growth and complexity of genetic testing, it explains why genetic testing and precision medicine have difficulties fitting into the existing healthcare delivery system.
  • One of the most important challenges is genetic testing in every day operational workflow at each healthcare facility. The challenge itself presents in the following 4 main operational processes.

Selecting and Performing Tests

Since the number of GTUs has increased rapidly, so has the number of laboratories that offer these tests. Hospital labs start finding themselves sending these tests to multiple different labs that specialize in diverse areas of genetics. This makes the situation complicated, not only in regards to the send out process, but also the test selection. Choosing the wrong test can lead to delayed testing and increased cost for all the parties involved. For example:

  • Knowing which lab offers which testing products is almost impossible without having to go through different catalogues and can be time consuming.
  • Comparing options between different labs can be difficult as different labs offer multiple testing panels.
  • Comparing pricing is next to impossible as not all labs publish the prices of testing panels . 

SOLUTION: GeneConnect helps professionals compare and contrast their choices easily saving time and money die to this collaborative software solution.

Placing the Order

After selecting the test, the order placement can be challenging as well as it can be time consuming. The process of ordering is not simple. It is a process that can have a high percentage of errors causing wasted time and potential legal risk. For example:

  • If the hospital is not integrated to these labs through a portal, paper requisition forms must be used.
  • Looking for the precise requisition form can be time consuming as a wrong form can turn into a delay. Sometimes paper forms can be lost altogether.
  • Filling forms can result in errors such as wrong patient information leading to the need to collect new samples. Sometimes, results may not reach the ordering provider as well.

SOLUTION: GeneConnect ensures that you no longer need to use paper requisition forms by completing the required information in the platform. This automatically is filled into the correct form that the lab can use to process effectively. Electronic documents can also be uploaded. Along with the completed form and supporting documents, the sample can also be printed and shipped to the lab reducing errors and wasted time.

Delivery of results

Failure to retrieve results that was ordered can cause harm and pose legal liability. Due to the complex ordering process and longer than average turnaround times, tracking of results can be difficult. For example:

  • Keeping an accurate record of paper based orders can be challenging. Since results are often delivered by fax which is a mechanism that is not secure or error proof, fax transmissions that do not arrive at the right place or time may be overlooked. This also increases the likelihood for healthcare providers to have duplicate testing as it may not seem as if such testing has already been performed. This increases unnecessary cost and risk.

SOLUTION: GeneConnect has records of every order that has been placed and delivers these results electronically enabling it to have a list of which orders were placed, which results were or were not returned. It simplifies the process for healthcare professionals to retrieve the results by using the EMR system.

Tracking and analysis or order data

To better manage the resources for the benefit of the institution and patient population, lab directors need to understand the ordering patterns in their institution. For example:

  • Since many genetic tests are logged as miscellaneous tests, review of the history can be hard to manage. Although these records are available, it can be challenging to identify where improvements (cost savings, quality improvements) can be made without research of the ir records.

SOLUTION: GeneConnect delivers insight through data visualization and reporting features. A technical assessment is also delivered, helping companies to identify improvement opportunities based on their company preferences. 

Data Collection, Curation, and Analytical Methods

  1. Data at Concert Genetics: Data collection is seen to be very important as it helps the customers and community. It is made to be as accurate, complete, and timely as possible.
  2. Discover: Genetic testing experts collect the test product information from CLIA-certified US labs, curate, and standardize this information. The Concert Genetics team keep this information up to date and comprehensive for other users. It allows labs to avoid the standardization process of submitting information every time changes are made. The same information is used to communicate these products tot heir customers. Active communication is maintained to ensure the accuracy of the data
  3. Curate: The curated database is key. Once a new product is launched and enters the data curation pipeline, a unique GTU is assigned and more data fields that describe the product is extracted. This helps with comparisons of products and allow market analysis. Once the data is separated according to different categories, it is curated according to GeneConnect’s internal requirements. Once structured and standardized, products are grouped into categories according to the analytes, molecular techniques used, and clinical indication. Once reviewed, the data is sent to the database that is available to all users.


Once curated, it is automatically updated to the lab catalog that is monitored weekly. Once new data appears, the data curation team is notified, and the catalog is updated through the regular pipeline pushing the latest data to be available to database that is available to all users. Audits are regularly performed on all labs to ensure the data is accurate. Post hoc analysis is done to check for inaccuracies in the data. Feedback from users and labs are also taken seriously to ensure continuous improvement.


All analyses performed by Concert Genetics are according to data that are specific to time.