Personalized Healthcare through Affordable Genetic Testing
Genetic Information is a Powerful Tool to Improve Healthcare
Invitae is a leader in advanced medical genetics. The company was founded with a singular mission: to make high-quality genetic information affordable and accessible to everyone who can benefit from it. The Invitae team includes pioneers in genetics, medicine, technology, and genetic counseling, and is trusted by medical experts around the world.
What is the impact of genetics on healthcare today?
RN:
An individual’s genetic make-up can have a profound effect on their health. Identifying patients with a markedly increased lifetime risk for breast, ovarian or colon cancer can have significant implications for prevention, including increased surveillance and preventive measures. In other cases, genetic make-up has a strong impact on drug therapy, rendering certain medications much less effective and others much more dangerous. In still other cases, genetics is involved in a complex interplay with environmental effects on health, such as a person’s response to COVID-19 infection or the probability of developing atherosclerotic vascular disease (“hardening of the arteries”) and heart attacks.
Equally important is the fact that modern therapies are becoming increasingly precise and focused on particular genetic forms of a disease, such as the treatments for certain forms of amyloidosis or blood diseases. Knowing that a patient has a genetic disorder, and knowing the exact genetic change, may be essential for finding the right treatments. Modern medicine is moving away from a “one size fits all” approach and instead is using a person’s genetic make-up to create individualized therapies.
Finally, a genetic disorder in one individual often means other family members are at risk too. Offering these family members “cascade testing” can reveal additional individuals at risk for genetic diseases.
How do health systems use genetics to improve patient outcomes?
RN:
Realizing the potential for improved health with genetics requires that genetic testing be inexpensive, easy to use, and delivered with enough information for both the ordering provider and patient to understand how to best act on the results. In addition, full implementation will require that genetic information be included in a readily accessible and retrievable manner, such as through electronic medical records. These are all important factors that can increase the medical benefit of genetic information in healthcare.
How does a doctor begin using genetics in their practice?
RN:
The first step is for patients and practitioners to be aware of the possibility of a genetic disorder. Traditionally, a healthcare provider assessed whether there was a family history—but we are learning now that can be an insensitive tool. A strong family history is an indicator of a possible genetic disorder, but its absence does not guarantee there isn’t still genetic risk. We are realizing that only by offering widespread genetic screening, even in the absence of a family history, can we fully identify people at risk. An example of this is carrier screening for couples considering a pregnancy. The vast majority of the time, a very serious genetic illness that can affect a newborn or infant is the result of inheriting two abnormal genes, one from each parent, who are themselves unaffected and unaware. Carrier screening is one of the clearest examples of a genetic test open to everyone—and it is just one example. There are also genetic screening tests available for hereditary cancer and heart disease risk that are not restricted to people who are themselves ill or have a family member with one of these disorders.
Why would a health system partner with Invitae?
RN:
As a worldwide leader in genetic testing, Invitae makes high-quality genetic information accessible. We continually strive to drive down the cost of testing so more patients can benefit. The first and last question we ask is “Will this make patients’ lives better?”
Our industry-leading options include:
• a low patient-pay price for cases where testing is not covered by insurance
• cascade testing for family members
• post-test genetic counseling for patients when access to a local genetic counselor is limited (US and Canada)
• an easy to use, HIPAA-compliant online portal
• in-depth educational and clinical support to help providers and patients use genetics to its fullest.