Beyond Dr. Google

Let’s face it, patients carrying giant stacks of printouts from their own internet research into their medical issues is a big trigger for most healthcare providers. Despite a few exceptions, it seems that patients without medical training can easily be drawn into a web-based rabbit hole filled with misinformation and misdiagnosis. With limited time for each appointment, the time it takes to address and debunk the misinformation takes away from the core reason the patient is in your office: to seek your expert medical opinion regarding a correct diagnosis.  

However, there is a new generation of web- and app-based digital health tools that are designed to support healthcare providers caring for patients. These tools can assist with pre-appointment information gathering as well as clinical decision support tools and diagnostic assistants.  

One of the largest areas of growth is in diagnostic assistants, which can help physicians add appropriate rare genetic conditions into their differential without requiring healthcare providers to have full knowledge of the 7,000+ genetic disorders. The goal of the diagnostic assistants is to suggest differential diagnostic options that might not otherwise surface in the clinical settings. Some assistants also include next steps for testing, information on free and sponsored testing programs and referral to help understand the returned results. These services are particularly useful to non-genetic specialists who then can feel more comfortable identifying patients with higher risk of having an underlying genetic condition for referral and preliminary genetic testing.

For example, the National Cancer Institute provides web-based risk assessment tools designed to help healthcare providers determine if a patient is at increased risk of having a predisposition to specific types of cancer over the next five years. Some of these tools include The Colorectal Cancer Risk Assessment Tool (ccrisktool.cancer.gov) and the Breast Cancer Risk Assessment Tool (bcrisktool.cancer.gov). Patients found to be at increased risk for an inherited predisposition to cancer can then be referred to a genetic counselor specializing in cancer to discuss family impact and organize the most appropriate testing.  

Other groups have developed specific genetic disease patient and physician risk assessment tools for treatable genetic conditions such as those for Fabry disease, Gaucher disease, hereditary angioedema and specific forms of intellectual disability (newswire.com/news/thinkgenetic-announces-integration-of-innovative-diagnostic-aid-in-21259949 &  treatable-id.org)  

Use of these tools can help healthcare providers who are not as familiar with genetic conditions to identify patients who may be candidates for clinical trials or would benefit from cutting-edge FDA-approved therapies. Additionally, as these conditions are genetic, a genetic counselor can help identify other family members who might also be at risk of being affected by the condition.

One other interesting combination of technology and genetics to help healthcare providers uses the same image recognition and deep learning algorithms as Facebook. As many genetic conditions have symptom profiles that include unique facial features, companies such as FDNA have created an app to suggest possible genetic diagnoses based on data gathered by facial images (face2gene.com). This tool can be used on existing digital images that can be uploaded to the HIPAA-compliant system or in-person photos to provide a personalized differential diagnosis list that a savvy physician can then compare to the patient’s other symptoms and medical issues.

No matter which digital health tool or diagnostic assistant is used, each of these innovations are designed to make medical genetics more accessible to physicians and other healthcare providers. Much of the complexity of medicine and services involves empathy and judgment; however, these digital decision tools can bring genetics into the care equation and aid human decision-making.