Medical genetics company Invitae released a first-of-its-kind data use transparency and impact report today detailing the impact of patient data on genetic research.
The report comes as concerns about data privacy and the security of protected health information surround pending legislation and recent data breaches.
Usage of de-identified patient data for secondary data research in 2021 was listed in the report. Transparency was touted in the press release as a tenet of the San Francisco-based company and a necessary measure to maintain the public’s trust in de-identified data. All patients represented agreed for their de-identified data to be used for research, according to Invitae.
“I think people make the assumption that if you open this black box, the public reaction will be more negative than positive, that using this data in a way that is legal to identify without transparency is less risky than being open and transparent about it,” Deven McGraw, lead of data stewardship and data sharing at Invitae, told Fierce Healthcare. “It’s an issue of risk tolerance and concern that somehow, it's going to reflect negatively on the company. We think just the opposite."
Invitae’s database comprises over 3 million tested individuals globally, according to the company. De-identified data from these sources has been used to help research a wide array of hereditary diseases along with the efficacy of targeted therapies.
In 2021, Invitae partnered with 15 biopharma companies to conduct clinical trial outreach initiatives across 17 medical conditions. The report lists 47 programs sponsored by Invitae in 2021 in a range of specialties from audiology to urology with 38 publications, 35 posters and 20 abstracts.
In 2021, Invitae launched its cloud-based data exploration tool providing aggregated genetic results, demographics and genetic variant classifications. The tool launched in October 2021 with licenses given to five biopharmaceutical companies. Invitae plans to expand access to the tool to some patient advocacy groups.
The Leukemia and Lymphoma Society is one patient advocacy group that supported a study performed in conjunction with Invitae. Patients diagnosed with cancers of the blood were studied to test the efficacy of COVID-19 vaccines. The results found that such patients were at an increased risk of breakthrough infections.
“I get very excited about how we are shaping policies around the treatment of cancer to make sure that people are getting the right medication or the right treatment option for their illness,” McGraw said. “Too often, the discoveries are happening but people are not necessarily getting those options presented to them at the bedside. When I look at the report and the work that we have done that results in policy change, whether it's public policy change or medical policy change, that gets me super excited.”
The Health Insurance Portability and Accountability Act (HIPAA) requires de-identification of data through either expert determination or safe harbor methods. The former denotes that a formal determination be made by a qualified subject matter expert, and the latter requires the removal of 18 identifiers of protected health information.
While the anonymization of data has long been required by HIPAA, data privacy has returned to the spotlight with the introduction of the American Data Privacy and Protection (ADPPA) Act into Congress and recent notable data leaks that compromised patient data, including the CommonSpirit cyberattack and lawsuits regarding the Meta Pixel tracker used on hospital websites.
The ADPPA would be the nation’s first federal comprehensive data privacy act. While it has yet to pass the House and Senate, the bill has stirred up debate regarding the balance between patient privacy and concerns that stringent privacy protocols would hinder research.
Concerns surrounding de-identified data tend to center on the risks of data being re-identified. Some argue that the HIPAA safe harbor requirements, implemented in 2000, do not account for the modern mountain of personal data that could theoretically be used to re-identify data.
Currently, patients give consent for their de-identified data to be used while at the point of care or through their provider. In a stricter landscape, Invitae might have to go to patients directly, using resources that could otherwise be directed toward research and advocacy.
“Our concern with the research definitions in some of these more recent privacy laws, and the ADPPA in particular, is that by trying to address the concerns that people have about de-identification, the vice is squeezed tighter and you potentially lose the ability to leverage that data for good,” McGraw said. “There are, in fact, other ways to assure responsible and accountable data research program beyond just heightening the identity to the identification device.”
Reports on data use transparency and impact can create trust with the public, McGraw said. Invitae maintains the two principles: patients own their data, and data are more valuable when shared. For those reasons, she suggests other companies maintain strict opt-in policies.
Give patients agency, build trust and show them what their data are capable of achieving, McGraw suggests.
“Patients tend to trust their doctors, but that trust is not necessarily trust for every entity in the healthcare system,” McGraw said. “Companies in particular have to be aware of that. How we leverage data is subject to scrutiny from the public. If they don't know what we're doing with their data, then it's much more likely that they're not going to trust us.”
ClinVar, a National Institutes of Health database on genetic variants, lists Invitae as its top contributor with 1 million submissions. In 2021, the company contributed 606,139 submissions related to 14,180 genes.
Invitae recently resolved a patent dispute with healthcare software company Optra Health regarding the two companies' chatbots. After tandem lawsuits, a settlement included Invitae licensing Optra Health’s chatbot technology.
The company has raised $2 billion in funding to date. In early November, it announced third-quarter revenues rising 17% year over year, largely due to optimization of the company’s portfolio. Invitae snatched $133.5 million during the quarter.