Case Study

Nationwide Telegenetics Provider Prepares for the Future with Forward-Thinking Genomic Software

PhenoTips made the everyday workflow of genetic counselors like Scott Weissman 2.5 times more efficient while preparing Genome Medical for a future in which genome and exome sequencing enter the mainstream.

Who

Scott Weissman didn’t plan to become a genetic counselor, in fact, he didn’t know genetics involved healthcare until a professor mentioned genetic counseling in the last two weeks of an introductory genetics course. Having aced the class, Scott decided to switch gears altogether and pursue genetic counseling.

“And I'm glad that I did because I love what I do,” he reflects, “I love helping people, I love helping people understand the background of their genetic disorders, helping them get a better sense of what their risks may be, different preventative actions they can take to minimize risk, so that people can live better and healthier lives.”

Now, with a Masters of Science in Genetic Counseling from Northwestern University, and over 15 years of experience, Scott is the Cancer Service Lead Genetic Counselor at Genome Medical, a nationwide provider of genetic health services via telemedicine.


I love helping people understand the background of their genetic disorders, helping them get a better sense of what their risks may be, and what different preventative actions they can take to minimize risk, so that people can live better and healthier lives.

Scott Weissman, MS, Cancer Service Lead Genetic Counselor, Genome Medical, San Francisco, CA, USA

The Problem

As a medical practice bringing genomics into accessible, everyday care across the United States of America, Genome Medical was looking for ways to improve day-to-day efficiency. Genetic counselors captured family history in a number of non-standard ways, some using a well-known pedigree drawing tool, and others drawing them by hand and reentering them. This lack of standardization, along with repetitive data re-entry, lead to loss of both time and money, as well as increasing the workload of genetic counselors, who already felt pressed for time.


We liked that it was really forward-thinking, it was built for where genetics was going not where it is today.


The Solution

It became clear that to continue to provide high-quality care to their nationwide population, Genome Medical needed software that captured family history in a standardized and efficient manner, so the team set out to find the best tool for their practice.

“I had had experience with other products on the market,” says Scott, “And wasn't particularly happy with some of the major products on the market. We tested out other products but really liked what PhenoTips had built.”

In addition to the standardized, easy to use, pedigree drawing capabilities of PhenoTips, Scott notes that the additional functionalities—including symptom capture with the HPO ontology, the ability to upload VCF files, and the ability to run differentials based on different features in families—sweetened the pot.

“We liked that it was really forward-thinking,” says Scott, “In our minds, it was built for where genetics was going not where it is today.”

“As the genetic testing technology gets better and becomes more cost-efficient, everybody will be having their exomes or genomes sequenced.” He hypothesizes, “Maybe the specific information you’re looking for will be filtered out and reported back to you, but you would still have this wealth of data to analyze in the future. PhenoTips is really set up to use that kind of data, as well as link it to your family members and your patients.”

The Results

Since Genome Medical started using PhenoTips a year and a half ago, Scott has noticed a significant impact. All of Genome Medical’s genetic counselors now use PhenoTips to draw pedigrees, making their daily workflows up to 2.5 times more efficient.

As a cancer genetic counselor, Scott credits a large portion of his improved efficiency to PhenoTips’ new built-in cancer risk assessment functionality.

“When we first started working with PhenoTips, I would have to build the family tree and then go into the Tyrer-Cuzick model or Gail model and re-enter a lot of the information that I just collected. So I was doing double or triple entry essentially. PhenoTips allows us to click a button and save anywhere from 15 to 30 minutes in extra work.”

Scott believes the benefits of efficiency don’t stop there. He thinks that for genetic counselors this time saved, “would definitely lead to decreased burn out because there’s more at your fingertips that’s being done for you.”

Aside from saving time, Scott notes that PhenoTips also improves standardization and accuracy, and not just for specific diseases like some software he’s tried, but for multiple subspecialties of genetics.

“It's very easy to use and it has certain functionalities that competitors don't have,” he says, “I find that I use these additional functionalities on a daily basis.”

When it comes to working with the team behind the program, “It’s been great.” He says, “The PhenoTips team is highly open to feedback and they're often making additions or subtractions to the program based on the feedback they’re hearing from their customers.”

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