So when generative AI made its way into the tech zeitgeist in 2023, our team was understandably cautious. We were (and are) optimistic and excited about the incredible possibilities that this technology brings, but in a sensitive and highly regulated environment, we were hesitant to jump in. After fits and starts of conversation, but never really moving beyond discussion, we knew we needed a different approach.

As anyone with a toddler can tell you, the antidote we found was time-tested and parent-approved: we decided to play. All things are easier to learn through play, and all problems are easier to solve with a little levity. We kicked things off in December 2023 with our holiday themed AI hackathon: HolidAI Hacks. The agenda was absurd and awesome, the perfect vibe for the week before our company-wide holiday break.

• Winter Wonderland of AI Tools: an overview of new AI tools on the market, and which ones we were making available to our teams.
• Merry Prompt-Making: A context to prompt engineer the jolliest futuristic AI art. The challenge: Create a piece of art that shows your ideal holiday tradition 50 years in the future.

A few of my favorites:

Prompt: 4 different families crowding around a table with a tablecloth with the artwork of a wong kar wai film and plated with a panoply of dishes like roast duck with crispy skin flaking off, the kids are floating above on a magic carpet, there is a robot in the kitchen preparing the next dish, and there is a 400 year old lady who has a glass ball for an eye.

Prompt: A futuristic Christmas scene in Southern Los Angeles, set in 2070, with several Pomeranians enjoying the holiday

• Candlelit Compliance: Using AI Responsibly: A fireside chat with our legal team to ensure that everyone knew the guardrails around using PHI, proprietary information and other sensitive data in AI tools.
• AI-generated holiday music written specifically for Color, including the would-be hits “Tech and Tinsel, a Merry Blend” and “In Color’s Halls Where The Bright Screens Shine”
• An AI-generated video deepfake of our Hackathon Architect and MC, Arfa Rehman

Real Arfa with Deepfake Arfa

• Mandatory pun-ny names for every hack (e.g., Sleighin the Patient Summary)

But where we ended up when the hacking was over and the judging was complete wasn’t absurd at all — our teams had a much deeper understanding of what AI could do for them and for our patients (we know this — we did a poll!). And most important, we walked away with the start of some real life investments in our product that have the potential to improve our internal operations and the experience of our patients.

A few that we’ll discuss in more detail in posts to come:

• An AI-generated patient summary to prepare our providers with all the context needed for their visit, a huge win for both clinical efficiency and patient care.
• An AI tool to assist clinicians in identifying potential drug interactions using pharmacogenetic data.
• A slack-based GPT assistant trained on Color Medical’s unique clinical protocols
• A prototype of an AI calling assistant to help our Care Advocacy schedule cancer screenings for our patients
• A custom GPT trained on behavioral design best practices to assist help us apply behavioral economics to product design
• A release risk assessment tool to identify potential issues with soon-to-be released code

What follows here will be a map of our AI playground: the hacks we tried and failed to get off the ground, the ones we nailed and worked to productionalize, and the ones we did just for fun. All of them are instrumental to our understanding of generative AI, building our intuition and judgment about the most valuable ways to leverage AI in our business, and how to do it well when safety, privacy and ethics are paramount.

How we used a little fun to get serious about AI at Color was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

Color’s lab is committed to producing reliable and repeatable clinical results. Thousands of samples come through Color’s lab daily, and in order to ensure the samples are tracked, handled and stored in the best possible way, the lab relies heavily on automation. Sophie Xu, Color’s automation technical lead, and Sierra Fisher, a robotics engineer, collaborated to bring this innovative automation to life and continue to work together to further refine and update the lab’s processes as the science evolves. “We wanted to build custom automation that not only works seamlessly, but works best for our lab and our assay,” says Sierra.

Color’s lab automation framework began with stand-alone robots in 2015, when Color first launched. Before the launch of the current system, Color’s lab was composed of a series of standalone robots, each with a different interface. Every device ran a specific set of procedures, and the lab relied on scientists to transfer sample plates between devices. Over the next five years, Sophie, Sierra and their teams have written tens of thousands lines of code, built hardware, streamlined workflows and optimized chemistry in order to execute Color’s first integrated automation system, which now powers our high throughput lab.

“We worked, and continue to work, as a lean team of four,” says Sophie, “So, supporting a production lab and developing new automation at the same time is a tough job.” Each team member brought a different set of knowledge to the table, from mechanical engineering, to software, to chemistry, to genetics and biology. The varied expertise combined with the focus on the same goal allowed for tag-teaming: When one team member is busy with a part of the project in their focus area, another member of the team can tend to more immediate problems, like troubleshooting for the production lab. “We frequently share our findings from different projects, which helps keep the whole team up to date.”

As they built the system and it continues to evolve, the team has consistently engaged with other teams across Color to understand how to make the system as usable as possible. In order to anticipate how operators will interact with the system, how it will react to errors or crashes, and how this new model will affect inventory of reagents, Sophie and Sierra’s team asked for feedback from the production team and technology transfer team. Sierra says, “the launching of this system involved not only our team, but other stakeholders across the company, which meant project management was key.”

“There was so much to learn,” says Sophie. “Everything was new to our lab.” To cover ground quickly, they each tackled different domains, with Sophie focused on the software integration side and Sierra learning the ins and outs of the new robots. The resulting new automation system includes several key components, like liquid handling robots, plate accessories and incubation devices. All of these components provide basic functionalities to process samples in the lab. Using these functionalities, the team was able to develop complex workflows and schedule them to maximize device usage and optimize efficiency.

The chemistry built by Sophie and Sierra’s teams is designed to be robust in order to buffer any variability from automation, and the automation, in turn, is optimized for carrying out precise chemical processes. The chemical process to prepare DNA for the sequencer is able to handle a range of concentration and quality of DNA, and DNA is amplified to more than is needed later in the process, so slight pipetting inaccuracies will not affect the final result. For automation, the team performs rigorous calibration for every robot and monitors their performance closely. They have also developed automated calibration techniques for more efficient, consistent and data-driven calibration.

Building this kind of automation is no simple task, requiring the team to nurture relationships with new vendors, learn how to work with new software and hardware, design proprietary software — all to build an automation system that is easy to use and easy to monitor for the operators. This new integrated system has fewer human touchpoints and a uniform interface within our Lab Information Management System (LIMS) for all procedures. This means operators can start different processes through LIMS, load plates and consumables at designated loading racks, and the robotic arms will take care of the rest.

The LIMS interface is also designed to be simple to use for operators: the custom SOP (standard operating procedure) and runtime system monitoring is integrated into one flow on LIMS. This means the team has migrated process management and lab information tracking onto the same platform, which provides data that gives better insight into the performance of our lab. An operator can log in to LIMS and monitor the entire life cycle of a sample. The fully-automated system also includes multiple checkpoints throughout the process to make sure samples are on their right track, including:

– Plate barcodes (for sample tracking)

– Reagent lot ID (to check the expiration date and track inventory)

– Temperature (for process control)

Even with a small team, Sophie and Sierra have been able to achieve things in the lab process that previously haven’t been possible. For example, the lab can now have multiple plates full of samples in the pipeline concurrently at different steps of the process — this allows the lab to fully utilize the downtime of every instrument, as well as free up lab technicians to do more complex clinical work, instead of simply loading machines. Currently in the lab, the team has connected multiple stand-alone units with robotic arms and can now control them through Color’s custom Lab Information Management System (LIMS). “This is a milestone for our lab development, says Sophie. “A strong first step toward a fully automated lab that runs 24/7.”

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com.

‘A milestone in lab development’: How two women pioneered automation in Color’s lab was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

Mistaken for a member of the HR team by a peer. Paid less than a more junior colleague. Continuously asked out on dates by male colleagues. Accusations of promotions simply as a result of diversity quotas. Left out of meetings held at urinals where crucial decisions were made.

When the women of Color’s engineering team are asked about the challenges they faced as women in technical roles before joining Color, these are just a few of the examples they shared. Those examples are a stark contrast to the experience they’ve had at Color, where 50% of the executive team is female, and 54% of the women in the company operate in a STEM role.

Anjana Ondov, a bioinformatics engineer, says the difference is obvious in how her team interacts: “We have a blameless culture, which makes me unafraid to try new things and think outside the box.” Product Engineering Manager Emily Johnston focuses her time on ensuring everyone on her team has the chance to be engaged in interesting, challenging work. She suggests the difference comes from working in health, because “biology is much more diverse than computer science and engineering.”

Rebecca Bauer, a software engineer, says, “I always feel like my ideas are heard and considered. Even as a relatively junior engineer, I’m included in design discussions and encouraged to give feedback on major technical decisions.” Suzette Puente Pimental, a data scientist, still remembers being shocked by the difference on her first day at Color. “I sat down to lunch and did a double-take: There were only women at the table.” Audrey Musselman-Brown, the first female software engineer at Color, joined at a junior level three years ago and she “loves how many female engineers have joined over the years.”

Color’s engineering team is 38% female and in addition to creating a culture that runs counter to traditional technical teams, they are pushing forward innovative and thoughtful solutions for population genomics and precision health. The team’s unique blend of software engineering, data science, and bioinformatics works across multiple domains including frontend infrastructure, clinical tools, bioinformatics, data science, security and privacy. This team is solving for new customer onboarding, EHR integrations, variant classification, pipeline reliability and more — all of which are crucial as Color grows into the population genomics space.

Career development is a priority for everyone on the team. Suzette’s production-level code writing skills have expanded exponentially since joining Color as a result of an “Effective Python” weekly reading group, where everyone is encouraged to ask questions and have their code thoroughly reviewed. “The Data Science team takes full ownership of a project, from ETLs to production-ready model implementation,” she says. “This meant I finally had the chance to learn Python and it forced me to push myself to become a programmer with better habits.” Audrey has grown, too: she joined Color with a master’s degree in bioinformatics, but no experience with frontend engineering. “Since joining, I have learned a ton about JavaScript and Angular. This is also the first place I’ve worked with Django. I’ve now done several complex Django migrations.”

A culture of collaboration across teams at the company is encouraging growth for everyone, even for seasoned engineers like Emily. “It’s my first time working in such close collaboration with non-software scientists. For the clinical folks we work with, we’re typically the first software people they’ve ever collaborated with, so we’ve all learned to be better at explaining what’s easy and what’s hard to do in our respective fields, and I’m getting better at anticipating the kinds of questions people outside of engineering might have.” This type of collaboration has led to innovations across the company.

Audrey has rebuilt the infrastructure for the clinical result generation process, expanding from just PDFs to include EHR integrations and multi-sample CSV exports for health systems. “This has allowed us to be confident that all these return-of-results methods are consistent with each other, and made our reporting process much more reliable.” Anju recently contributed to a cross-functional project between software engineering and the Scientific Affairs team that annotated Structural Variants (SVs). “This project was a huge value-add for our Variant Scientists. They now have accurate annotations for SVs which makes classifying SVs easier.” Now, she’s working on a new algorithm to find multiple nucleotide variants (MNVs), which is a variant that occurs over more than one base.

The women on Color’s engineering team are consistently reaching further in their work, acting as a driving force behind the entire technical side of the business as they pitch and explore new ideas through Hack Week, Fixit Week, and day-to-day inspiration. Rebecca partnered with a laboratory engineer on an integration between LIMS, Color’s custom-built lab software, and the lab’s new robotics system, HighRes, to automate a complicated and time-consuming step in our lab process. “This project was the first time that LIMS had controlled a lab robot, which represents a major shift in the way our lab works.” Now, she’s focusing on the Report Harmonization Platform for the All of Us Research Program, where she is adapting existing reporting tools for the million-person study. “While we’re at it, we want to improve the tool for our internal users as well,” she says.

In a world where a majority of technical roles are still filled by men, the women in engineering at Color are leading the charge with innovation, all while building a culture that values difference and welcomes varied voices. Suzette says, “before joining Color, it was rare to have another woman at the table.” Now, it’s rare to be the only one.

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com.

Color’s women in engineering: ‘Before joining Color, it was rare to have another woman at the… was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

As a woman working in medical research, I’m aware every day that I work in a typically male-dominated field. Across all industries in the US, women are underrepresented in senior leadership positions: Only 38% of women hold manager-level positions, and only 41% of companies set gender representation targets for senior level management.¹ However, I work on a team and at a company that values diversity and inclusion across the team: at Color, 50% of our executive team is female, and 54% of the women at Color work in a STEM role.

At Color, as women working in STEM, we know we stand on the shoulders of giants: the women in research and science who came before us and paved the way for the impact of modern genetics.

1. Nettie Maria Stevens was an American geneticist who discovered sex chromosomes (X, Y) while working on mealworms in 1906. Prior to Stevens’ discovery, it was assumed that environmental factors during conception determined sex.
2. Charlotte Auerbach is the mother of mutagenesis (the process by which genes develop mutations) and discovered genetic mutations caused by mustard gas in 1941.
3. Esther Lederberg discovered lambda phage in 1950. Lambda phage is a bacterial virus that is now used to study gene regulation and genetic recombination. Lederberg also invented the replica plating technique, which is used to isolate and analyze bacterial mutants, as well as to track antibiotic resistance.
4. Rosalind Franklin found that DNA takes two forms: an “A” and “B” form. An x-ray of the “B” form led to Watson and Crick’s discovery of structure of DNA as a double helix. Watson and Crick received the Nobel Prize for this discovery in 1962.
5. Barbara McClintock won the Nobel Prize in Physiology or Medicine in 1983 for discovering mobile genetic elements, or “jumping genes,” which helped us better understand one way that genomes can change and evolve.
6. Salome Gluecksohn-Waelsch was a pioneer in establishing the field of developmental genetics, and was awarded the National Medal of Science in 1993. She studied how proteins work together in early embryonic development.

These discoveries have allowed our Scientific and Medical Affairs team to make strides in medical research. The Scientific and Medical Affairs team is 70% women, with each woman making significant contributions to Color’s work. Read more about the women pushing our innovation in research forward:

Adriana Boateng-Kuffour, MS, MPH

Adriana performs patient-centered outcomes research at Color. She provides subject matter expertise, guidance, and recommendations across teams on topics like health economics and outcomes research (HEOR), and patient-reported outcomes (PRO). Her current research assesses participant comprehension of the All of Us Research Program’s pharmacogenomics and hereditary disease risk reports.

Natalie Lang, MS, LCGC

Natalie is a genetic counselor working on scientific curation at Color. She is responsible for researching new developments within the scientific community to make sure Color reports include the most up-to-date information about genetic risks and screening guidelines. Natalie also helps write the clinical content found in Color results. She is currently writing and developing new genetic trait and ancestry content that will be provided to Color clients.

Cynthia Neben, Ph.D

Cynthia coordinates cross-functional research projects at Color involving data scientists, medical geneticists, variant scientists, and genetic counselors. She also manages Color’s role as a Clinical Validation Laboratory and the genetic counseling resource for the NIH All of Us Research Program and works closely with program partners, including the Broad Institute of MIT and Harvard. A bench scientist by training, Cynthia conducts data analyses and writes abstracts, manuscripts, posters, and platform presentations at national conferences.

Sydney Okumura, BS

Sydney works closely with our key academic collaborators and drives the adoption and use of Color in vital partnerships. Working cross functionally between internal teams and external partners, Sydney supports research projects from beginning to end, including Color’s partnerships with the GENERATE Study and Verily’s Project Baseline.

Lily Servais, MS, LCGC

Lily is a genetic counselor and part of the Medical Affairs team. She develops and curates educational materials for medical professionals that include general concepts in genetics and population health as well as scientific, clinical presentations about Color’s products. Lily works with internal teams at Color and external clients using Color to develop and implement solutions tailored for their population’s needs.

Hannah Williams, MPH

Hannah works closely with Color’s product, data science, engineering and design teams to develop data-driven solutions that improve population health outcomes. She supports Color’s research efforts by preparing research proposals and performing data analyses for scientific publications and presentations. Hannah currently serves as study coordinator for Color’s Genetic Score Study, which involves the return of polygenic scores to research participants.

Alicia Zhou, Ph.D

Alicia leads Color’s research, scientific, and medical affairs teams and is a member of Color’s executive team. She manages our research collaborations with academic institutions, biopharmaceutical companies, and large population initiatives, as well as initiating, executing, and publishing peer-reviewed manuscripts and posters by Color’s scientists and engineers. Alicia is also an active part of Color’s market development team for population genomics and research. She plays a key role in our partnership with the NIH’s All of Us Research Program, the largest U.S. genomics research initiative.

Anjali Zimmer, Ph.D

Anjali works across all things research as part of the Scientific Affairs team at Color. Contributing to academic collaborations and scientific publications by the Color team, Anjali connects across the entire company as a scientific contributor to our products. She has been a co-author on over 20 scientific poster presentations during her time at Color and co-authored a publication in collaboration with Stanford doctors Allison Kurian and Jennifer Caswell-Jin on the Color Family Testing Program.

We’re immensely proud of the work of the women on this team. We hope that by leveraging the power of genetics and technology to accelerate research across life sciences, we are honoring the work of the women who have led the way in our field.

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com.

References:

1. Women in the Workplace 2019: The State of Women in Corporate America. Lean In. https://leanin.org/women-in-the-workplace-2019 Accessed February 27, 2020.

Color’s women in research: leading the way in population genomics was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

March is Women’s History Month, a month to celebrate women’s history, share stories about women having an impact on their fields, and examine how women are represented across industries. Today, Color’s Head of Clinical Services, Lauren Ryan, MS, LCGC, discusses how women can stay healthy by getting the right screenings for their age.

It’s a safety message we hear often: secure your own oxygen mask before helping others. It applies to healthcare as well: when tasked with being the caregiver for others, people are more effective when they’re maintaining their own health. For many women, this can be challenging.

Studies have shown women make about 80% of the healthcare decisions for their families, but are especially likely to put off their own care if uninsured, younger, or from a non-white ethnicity.¹ Today, we’re sharing guidelines for women who have the same cancer and heart disease risks as the average US woman to empower women to take action that will keep them healthy. These screening guidelines could differ depending on your family history or genetic information, which your healthcare provider may use as they build a customized screening plan for you.² ³ ⁴ ⁵ ⁶

Celebrate Women’s History Month by learning your risk, making time to get screened, and helping others take thoughtful action to get and stay healthy.

Age 20: Get your cholesterol checked every 4–6 years. Healthcare providers may discuss screening more often if you have elevated risk for heart disease and stroke.

Age 21: Get a Pap test to screen for cervical cancer every 3 years until age 29.

Age 25: Get a breast exam, risk assessment, and risk reduction counseling from your provider every 1–3 years until age 39.

Age 30: Get a Pap test to screen for cervical cancer, as well as an HPV test, every 5 years until age 65.

Age 40: Get a breast exam, risk assessment, mammogram, and risk reduction counseling from your provider every year until age 75. Providers may also suggest screening with tomosynthesis, which is a 3D mammogram.

Age 45: Check blood glucose levels at least every 3 years. High blood glucose levels elevate the risk of developing insulin resistance, prediabetes, and type 2 diabetes.

Age 50: Get a colonoscopy every 10 years until age 75. Other options include: Stool-based testing (high-sensitivity guaiac-based or immunochemical-based) every year, stool-based FIT-DNA testing every 3 years, flexible sigmoidoscopy every 5–10 years, or CT colonography every 5 years. These recommendations may change if you have polyps, colon cancer, inflammatory bowel disease (IBD), or a family history of colorectal cancer.

At the time of menopause: All women are recommended to ask their doctors about the risks and symptoms of uterine cancer and report any unexpected vaginal bleeding or spotting to their doctors.

Best practices at any age:

– Women are encouraged to be familiar with their breasts and promptly report changes to their healthcare provider.

– Ask for a blood pressure check at every healthcare visit or at least once every 2 years. Providers may suggest screening more often if your blood pressure is higher than average.

– Know yourself, your family history, and your risks. Genetic testing can help you understand your individual inherited risk for conditions like cancer and cardiovascular disease.

– Get regular check-ups and cancer screening tests. A cancer-related check-up should include health counseling and, depending on age and gender, exams for cancers of the thyroid, oral cavity, skin, lymph nodes, testes, and ovaries, as well as for some other diseases besides cancer.

– To reduce the chance of developing melanoma, limit exposure to UV light by avoiding excess sun exposure, wearing a hat, sunglasses, and long protective clothing, applying sunscreen with SPF of 30 or higher and avoiding tanning beds and sun lamps. Any new, unusual, or changing moles should be reported to your provider or dermatologist.

– Don’t smoke and avoid secondhand smoke. Quitting smoking can decrease the risk of heart attack and stroke.

– Get moving with regular physical activity by engaging in moderate exercise–like walking, running or swimming–for a total of 150 minutes a week. Include moderate to high-intensity strength activity, such as lifting weights or yoga at least 2 days per week.

– Eat an overall healthy dietary pattern that emphasizes a variety of fruits and vegetables, whole grains, low-fat dairy products, skinless poultry and fish, nuts, and legumes. Limit saturated fat, trans fat, sodium, red meat, sweets, sugar-sweetened beverages and alcohol.

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com.

References

1. Matoff-stepp S, Applebaum B, Pooler J, Kavanagh E. Women as health care decision-makers: implications for health care coverage in the United States. J Health Care Poor Underserved. 2014;25(4):1507–13.
2. National Comprehensive Cancer Network. Breast Cancer Screening and Diagnosis. NCCN Guidelines Version 1.2019. Published May 2019. Available at www.nccn.org.
3. National Comprehensive Cancer Network. Colorectal Cancer Screening. NCCN Guidelines Version 2.2019. Published August 2019. Available at www.nccn.org
4. Skin Cancer Prevention and Early Detection. The American Cancer Society. Updated March 19, 2017. Accessed August 14April 2, 20198. Available at www.cancer.org
5. American Cancer Society Guidelines for the Early Detection of Cancer. Updated May 30, 2018July 7, 2017. Accessed July 17, 2019April 2, 2018. Available at www.cancer.org
6. Eckel RH, Jakicic JM, Ard JD, et al. 2013 AHA/ACC guideline on lifestyle management to reduce cardiovascular risk: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation. 2014;129(25 Suppl 2):S76–99.

How women can get — and stay–healthy was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

Stephanie Wallace, MS, LCGC, is Color’s lead cardiovascular genetic counselor, guiding individuals through their test results and toward productive next steps for their unique health journey. Today, Stephanie shares more about her life at Color and how building a population-level dataset around cardiovascular conditions can lead to improved outcomes.

Tell us about yourself and what got you into Genetic Counseling.

I am the lead cardiovascular genetic counselor at Color, and I also serve as the genetic counseling liaison between our team and the Scientific Affairs team. I come from a clinical/research background and have been able to use both skill sets in my role at Color. I provide support and education to our team on cardiovascular genetics and also help in launching products such as our coronary artery disease genetic risk score research study.

During graduate school, I was exposed to the role of cardiovascular genetic counselors in post-mortem genetic testing. In these circumstances, someone may have passed away suddenly; in one third of such cases, the underlying cause is a cardiovascular genetic disorder. The genetic counseling in these situations is complex — it’s a combination of grief counseling, expectation setting, and then helping the individual understand the complexity of genetic information. This unique situation requires an investigative personality, which I have, making cardiovascular genetics a perfect fit. Every day, I provide answers, guide understanding, and protect families from additional trauma. It’s been a huge shift in how I think about my job: now, instead of using my skills to help families make sense of a devastating life event, I am using my skills to help prevent one.

I’m a naturally extroverted person, so I love being on the phone with patients. It makes my day to work with a person who may be under stress and to help turn that ship around. Nothing is more satisfying than helping someone understand their results or their family history and empower them with steps to move forward and mitigate risk.

What attracted you to working here?

I was looking for a shift from a traditional clinic role to an industry position that still allowed me to interact with patients. In a traditional clinic, one of the biggest frustrations is the burden that finances and insurance can put on patients. Here at Color, where access to clinical testing and potentially life-changing genetic information is a priority, I get to work with a team that is able to identify people who are at risk before an adverse event occurs. That is empowering. (The free snacks and dog-friendly office don’t hurt, either! When I was researching Color, the snacks were featured on the Careers page–that drew me in pretty quickly!)

What excites you about what Color is doing?

As a cardiovascular genetic counselor, I know that cardiovascular disease lacks the population level data that cancer boasts. I’m excited that we’re working to build datasets that address this discrepancy. The additional information will help drive patient screening and management as well as further our community’s understanding of exactly what these mutations can mean to those who have no history of disease in their family.

What has been the biggest surprise for you here at Color?

One of the best parts of what I do is empowering people with their results. My job involves counseling individuals with mutations in cancer and cardiovascular genes, many of whom had no previous knowledge of their risk. I thought I would be giving bad news to every person, but most people are so thankful that they have the information and can act on it.

When I started I was a bit skeptical about our Discovery product, which gives individuals insights into things like ancestry, cilantro taste, and lactose intolerance. These traits are so far from the traditional clinical testing that I was used to and I originally wasn’t sure if they would have relevance for us. What I didn’t expect is that these offerings drive re-engagement with core health results and can lead to action and impact. I’m a data-driven person and seeing how our Discovery product helps people engage in their core health results and reach out for additional help has converted me.

What has been your favorite memory so far?

Our genetic counseling team is a spectacular make-up of extremely intelligent, hard-working, thoughtful people. As a result, I’ve produced work that is much better than I ever dreamed and I’ve felt safe enough to step out of my comfort zone because I know I have a team that will support me if it doesn’t go perfectly. We’re a very close team — several of my teammates were at my wedding! Every year, we host a team onsite, where we strengthen the team by sharing our unique insights and skills gained over the year. This year we also made pizza together in a cooking class as a bonding activity and it was one of the best group experiences we’ve had.

How else do you bring your unique talents to Color?

My favorite way to relax is to bake and I’ll often bring in the fruits of my labor for my co-workers to enjoy, so I don’t eat them all at home. Around Thanksgiving, I hosted a pie-making class to help everyone get ready for the holiday. Great British Bake-Off is one of my favorite shows, so I hosted a finale watch party last fall. Everyone brought in their favorite treats for an early morning!

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com.

Life at Color — Meet Stephanie Wallace (Lead Cardiovascular Genetic Counselor) was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

African Americans still have the highest mortality and shortest survival rate of any racial or ethnic group in the United States. The age-adjusted mortality rates for stroke and heart disease have declined by 61% and 70% nationally since 1975.1 However, this trend does not apply to African Americans. Compared to non-hispanic whites, the age-adjusted mortality rates for African Americans are 20% and 40% higher for heart disease and stroke, respectively.¹ In addition, African American women are more likely to develop aggressive breast cancers, and are 40% more likely to die from the disease.² Later detection, unequal access to care, and later stage diagnosis contribute to this disparity. By adding population genomics as a foundational layer of healthcare, we can help bridge this health equity gap.

Since the publication of that opinion piece, Color has participated in projects in an effort to improve minority representation in medical research and to increase access to genetic testing across all communities. We believe that these steps help people make better, more informed decisions about their health, but there is more work ahead. As we honor black history this month, we’re sharing some of our work that is helping to bridge the health equity gap and build a better healthcare future that works for everyone.

African Cancer Genomics Initiative

Color is collaborating with Dr. Olufunmilayo Olopade from the University of Chicago to improve breast cancer outcomes and access to quality care in underserved African women. In partnership with academic centers and hospitals across Africa, Dr. Olopade has sampled patients affected with early-onset, high-risk breast cancer to examine the frequency of pathogenic variants in African women. Through this initiative, Dr. Olopade is delivering Color’s end-to-end genetic services to patients across Africa. Starting with her home country Nigeria, Dr. Olopade has assembled a team to handle the entire clinical testing process, from collecting samples to returning results back to patients. To date, more than 200 patients have received genetic testing at two clinics located in Ibadan and Lagos in Nigeria.

All of Us Research Program

In an effort to advance precision medicine, All of Us is a research program run by the National Institutes of Health (NIH) that aims to sequence the genomes of one million participants, 80 percent of which are to come from diverse communities across the United States. To ensure that all participants, regardless of their socio-economic backgrounds, understand their genetic testing results, Color was selected as the program’s genetic counseling resource and is providing the technological backbone for the broader program, building custom software and tools to integrate data from all the genome centers, standardize reporting across the program, and ensure all results are returned in a unified way. To facilitate a better participant-physician relationship, Color genetic counselors will also help connect participants to healthcare providers who can address their particular health risks. In addition, Color will offer tele-counseling and educational materials in multiple languages to enhance genetic health literacy and improve participant comprehension of their genetic reports. People of every race, ethnicity, sex, gender, and sexual orientation are welcome to join the research program to help expand medical discovery for underserved and underrepresented groups.

Color for All

Partnering with top research hospitals and clinics, Color for All endeavors to ensure genetic testing is available to all women and men, regardless of their financial situation. Partners include Stanford Center for Inherited Cardiovascular Disease, which specializes in the care of patients and families with genetic disorders of the heart and blood vessels; and Morehouse School of Medicine, which is dedicated to increasing the diversity of the health professional and scientific workforce and addressing primary healthcare needs through programs in education, research, and service, with emphasis on people of color and the underserved urban and rural populations in Georgia and the nation.

References

1. Mensah GA. Cardiovascular Diseases in African Americans: Fostering Community Partnerships to Stem the Tide. American Journal of Kidney Diseases.https://www.sciencedirect.com/science/article/pii/S0272638618308321. Published October 18, 2018. Accessed February 12, 2020.
2. Breast Cancer Facts & Figures 2019–2020. American Cancer Society. https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/breast-cancer-facts-and-figures/breast-cancer-facts-and-figures-2019-2020. Published 2019. Accessed February 12, 2020.

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com.

Black History Month: Bridging the health equity gap through population genomics was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

Originally released over a year ago, Color Data is a publicly available database with genotypic and phenotypic information from individuals who have taken the Color test. A database largely built out of existing software and resources, it allows users to easily explore data by building custom queries with self-serve filters. Since its release in 2018, the site has been used as a data source for peer-reviewed publications and an educational reference for student-learning. All of the information in this database is from participants that generously consented to research, and we describe the measures we take to protect the privacy of these individuals (as well as database specifics) in our flagship publication.

Today’s new release expands data and features: In addition to an updated hereditary cancer dashboard, the database now includes a new dashboard for hereditary cardiovascular conditions. This dashboard contains genotypic information from 30 genes associated with hereditary cardiovascular conditions, along with self-reported phenotypic information (such as age, gender, and personal and family health history) from over 18,000 individuals.

By expanding the database to include hereditary cardiovascular conditions, researchers can now easily explore the interactions between genetic data and health history information for this disease area. For example, someone can filter by variant classification to identify the most common pathogenic variant in the dataset, which is a 25 base pair deletion in the MYBPC3 gene. MYBPC3 is an important gene for heart development and this 25 base pair mutation is associated with increased risk of cardiomyopathy. Upon further inspection, it turns out that 85% of individuals with this variant report being of Indian ethnicity:

This deletion is a well-known pathogenic variant found at 2–8% frequency in Indian populations. Our hope is that this new dataset will allow researchers to reproduce other findings as well as discover novel interactions between genetic and health history information.

In addition to hereditary cardiovascular conditions, we have expanded Color Data to include clinical risk models and polygenic scores for cancer and heart conditions. Clinical risk models are commonly used by healthcare providers to estimate risk and guide patient care. These models use lifestyle information, such as cholesterol levels and BMI, to assess an individual’s risk of developing certain diseases. The clinical risk scores in this new release include breast cancer, atrial fibrillation, and coronary heart disease.

Polygenic scores are another type of risk model that use genetic information from many common variants across the genome to estimate disease risk. Research has demonstrated that polygenic scores can identify individuals at higher risk for certain conditions, sometimes with risks as high as people with a monogenic (single gene) pathogenic variant. At Color, we have pioneered a novel approach to calculate polygenic scores using low coverage whole genome sequencing in collaboration with Drs. Sekar Kathiresan and Amit V. Khera, and we are excited to include these scores in the database.

With Color Data, people can now easily explore how polygenic scores can be used to stratify risk in a population. For example, one can subset the Color Data hereditary cancer dashboard to females with a personal history of breast cancer:

The graph shows polygenic scores for breast cancer risk are shifted to the right for females with a personal history of breast cancer compared to the entire population. This further demonstrates that the polygenic scores can be used to identify individuals with increased risk of developing breast cancer.

These two findings are just the beginning of what can be discovered with Color Data. We are excited for researchers to explore the new release, which is the product of collaboration between our research, engineering, design, and data science teams. For a detailed look at all of the new features and data in this release, read our pre-print publication.

We hope this new release will assist the scientific community in identifying genetic and non-genetic risk factors for disease. Exploring these relationships is a small step towards advancing human health and we are excited to see what everyone finds.

About Color

Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us Research Program by the National Institutes of Health. For more information about Color, visit www.color.com

Color Data: Expanding the capabilities of our open-access database was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

When Carmelina Heydrich, MS, LCGC, first considered getting genetic testing, the impetus was a long family history of cancer. “My mom has had breast cancer and so have all the other women in her family. There’s also breast and ovarian cancer on my dad’s side. Concerns about increased cancer risk have always been on my mind.” So, it was surprising when genetic testing in the Heydrich family revealed no mutations associated with cancer risk, but instead revealed something unexpected.

Carmelina first heard of Color while working as a genetic counselor in Boston in 2015. A physician in her office sent around a New York Times article about the company when it was first founded. “I remember reading through the article and saying out loud, ‘I want to work there.’” Two years later, ready to return home to the West Coast and looking for a genetic counseling role that would increase access to genetic testing for underserved communities, she joined the Color team. However, her family didn’t participate in testing until 2018. “The reason we all ultimately did it was my sister.”

Around 2012, Carmelina’s younger sister, Laura, began having unexplained fainting episodes. After six years of questions and almost 20 fainting episodes, doctors diagnosed her with a seizure disorder and pointed her to neurologists, but did not consider genetic testing or other referrals. In the fall of 2018, Laura fainted twice in the span of 12 hours, sending her to the emergency room. It was in the ER that Laura had her first EKG, on which doctors saw her heart was taking too long to beat (also called a prolonged QT interval), and sent her to cardiology.

“That was very shocking. My sister is very fit, she’s a personal trainer and exercise is a huge part of her life, so doctors had always told my family there was no way something could be going on with her heart.”

Carmelina knew prolonged QT intervals can be genetic and her job provided a faster path to testing than any of Laura’s other options. “In addition to analyzing genes associated with hereditary cancer, Color also tests for genes associated with hereditary heart conditions…I had access to testing for my family for free [as part of my employee benefits].” Laura’s results came back positive for a mutation in the KCNH2 gene, which is associated with a hereditary condition called Long QT syndrome. Her doctors immediately sprung into action. “It wasn’t until the genetic test result landed on their desk that they seriously considered next steps to care for her heart.”

Laura’s fainting episodes were eventually determined to be due to her abnormal heartbeat, not seizures. “My family feels very lucky that my sister finally has the right diagnosis — without it, we might have lost her,” says Carmelina. Laura’s doctors implanted an ICD, an implantable cardioverter-defibrillator, to monitor her heart rhythm and provide electric shocks to the heart should an abnormal rhythm be detected.

Laura’s mutation was also found to be de novo, meaning that it was a “new” mutation in the Heydrich family — neither of her parents nor her siblings have the mutation. Though rare, mutations like this can be a reason for testing multiple people in a family, especially those who have a concerning medical history. “In my family, the most striking history is the multiple generations of cancer, but there ended up being no mutations in any of the genes associated with increased cancer risk on either side of the family…if just my parents had been tested for cardiovascular and cancer risks, their negative results would have suggested that the next generation didn’t need testing. We would’ve missed my sister’s mutation.”

Cases like this guide how Carmelina counsels her patients. “When someone has a health concern like Laura did, they should consider genetic testing even if they don’t have the ‘right’ family history. And when a patient has negative test results, I still discuss testing for relatives as an option to explore risks in the family further. Your negative result, while reassuring, does not automatically mean there is not a genetic risk factor in the family.”

The Heydrich family truly believes that accessible, clinical-grade genetic testing, like Color, saved Laura’s life. After recovering from the surgery to implant her ICD, Laura continues to work as a personal trainer and can still live her active life, now with less worry of another cardiovascular event. “Having an explanation for a health problem is one of the most powerful things about genetics. Knowing why something is happening — being able to put a name to something — means life-saving steps can be taken.”

About Color
Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us program by the National Institutes of Health. For more information about Color, visit www.color.com.

‘Without it, we may have lost her’: A rare heart condition revealed was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.

Last week, we shared that 1 in 200 people have a heart condition with a genetic basis and most people with inherited heart conditions often do not experience symptoms or know they are at risk. As a part of Color’s clinical grade services, we test 30 genes for mutations related to four types of inherited heart conditions: arrhythmias, familial hypercholesterolemia, cardiomyopathies, and arteriopathies. Today, our Lead Cardiovascular Genetic Counselor, Stephanie Wallace, MS, LCGC, is talking about what to do with genetic testing results that show a positive result for a mutation related to cardiovascular risk.

One of the most common questions I hear from people looking to be proactive about their health is, “I have a family history of heart disease — does that mean I’m at risk too?” Family history can be a strong indicator for your risks, whether they are present in your DNA or because we tend to share a similar environment with family members. What can your family history really tell you about your risk and what information is the most helpful?

First, it’s important to understand the difference between inherited and familial health conditions. There are some heart conditions that can be passed from parent to child because of one small change in the DNA–these are inherited and include conditions like hypertrophic cardiomyopathies, Long QT Syndrome, Marfan Syndrome and familial hypercholesterolemia. We have over 20,000 genes in our body and inherited heart conditions are caused by approximately 50–100 genes.

When we think of familial conditions, we think of our genes and our environment. Most heart diseases — like high cholesterol, high blood pressure, diabetes, and atrial fibrillation — aren’t due to single changes in DNA. They may be due to a combination of thousands of genetic changes, environment, and lifestyle choices. Another way to imagine your overall risk is like a jar of marbles–as the jar of marbles gets more full, your overall risk for a cardiovascular condition increases.

Genetics form the foundation of the marble jar. Think of genetic factors as the marbles at the bottom of a jar. They are the marbles you are born with, and they remain unchanged throughout your life, despite diet or lifestyle changes. These marbles can be large or small depending on how much they each influence risk.

Lifestyle choices can increase or decrease the number of marbles. Unhealthy habits like smoking or lack of physical activity can increase the number of marbles in your jar, which means your risk increases. As you improve these habits, the number of lifestyle marbles in your jar decreases, which decreases your overall risk.

A full marble jar means coronary heart disease has developed. When the number of marbles in the jar reaches the top, that means your risk is high enough that you develop coronary heart disease. Individuals who start with more genetic marbles in their jar are closer to filling it, which is why their overall risk is increased.

If you have a family history, making your provider aware of that history is very important, so that they can determine how you should be treated. Keep in mind that family history changes over time, so updating that family history is equally important. When sharing your history with your provider, be sure to include:

– Type of disease: Heart disease can mean many different things, from a blockage in the artery to an arrhythmia that causes the heart to stop. Ask your family for details — they may not know the diagnosis but your provider may be able to determine if additional screening is needed based on information like if they had surgery and the specific circumstances around the death of relatives. All of this information can help to determine what risks your family history may suggest.

– Age: Knowing what age a person develops disease is very important for two reasons: (1) it can influence when to start screening other members of the family and (2) disease at an early age can be a red flag that there is an additional genetic component. Risk for heart disease goes up with age, but when we see heart disease in a younger individual — like a heart attack at age 35 — we know that there may be a higher chance for an inherited form of heart disease.

For more information on risk factors, family history and heart disease visit the American Heart Association

About Color
Color powers precision healthcare through cutting-edge technology. Color makes data-driven health programs such as clinical genetics accessible, convenient, and cost-effective for everyone. Color partners with leading health systems, premier employers, and national health initiatives around the world including the million-person All of Us program by the National Institutes of Health. For more information about Color, visit www.color.com.

American Heart Month: How Genetics Impacts Heart Health was originally published in Color on Medium, where people are continuing the conversation by highlighting and responding to this story.