Genetic testing is an essential tool to assist patients and clinicians to better understand the risk of hereditary disease. The cost of genetic testing has decreased and the number of genes routinely evaluated has increased in recent years, due to massively parallel sequencing methods and new discoveries [1, 2]. Patients now have increased access to genetic information that can be important for their and their family’s health.
Early genetic testing for germline risk variants can promote reproductive autonomy and lead to the recommendation of appropriate medical screening to mitigate risk of developing disease or provide early diagnosis at a more treatable stage. For example, the most common hereditary disease that elicits a genetic clinic visit and testing in adults is cancer, specifically colorectal cancer (CRC), breast cancer (BC), and ovarian cancer (OC). Approximately 5% of CRC and BC, and 10–20% of OC, is due to high penetrance Mendelian conditions [3,4,5]. CRC accounts for 9.5% of all new cases of cancer [6]. BC is the second leading cause of cancer death in women; 3% of women in the U.S. will die of BC [7]. OC affects 1–2% of women, most of whom will die from it. To mitigate the cancer-related death rate, early detection of Mendelian (germline) cancer predisposition is of grave importance. If CRC-associated pathogenic variants are found, colonoscopy with polypectomy can prevent CRC and prophylactic bilateral salpingo-oophorectomy surgery reduces OC risk and are consensus recommendations [8, 9]. Similarly, for BC/OC associated genes, prophylactic mastectomy reduces risk of BC [10]. Thus, early genetic testing is necessary to reduce risk of morbidity and mortality for patients.
While genetic testing is important for patients, these test results may also be important for their biological relatives. A patient’s positive test result allows for inexpensive and often free direct testing of at-risk family members for that same pathogenic variant. A positive or negative test in a family member is likely to affect their clinical care. For positive test results, relatives’ treatment plans may change to reduce disease risk, while for negative test results, relatives may not be at increased risk and additional testing may not be necessary [11].
However, sharing of genetic results between patients and their biological relatives is infrequent [11,12,13,14,15,16,17,18]. The two most frequently reported communication barriers for sharing are (1) patients have difficulty in clearly communicating the results and meaning, and/or (2) biological relatives have difficulty in interpreting the result [11,12,13, 17]. Nieuwenhoff et al. found that patients had limited knowledge of their test results and this influenced whether or not they would share [12]. For example, terms in the test result like “hereditary” implied danger and motivated patients to share, while terms like ‘sensitivity’, ‘tendency’, and ‘it runs in the family’ made patients perceive the results as normal and did not share [12]. Additionally, if patients shared then there was a risk of arousing fear in their relatives, as they couldn’t clearly explain the benefit and risk reduction from getting their own genetic test results [12]. Another recent study reported when patients shared their test results with their biological relatives, over 20% didn’t fully understand the results and were unsure if they were at risk for cancer [11]. This 20% was mainly for non-informative test results, indeterminate results or variants of uncertain significance [11]. As a result, patients’ explanations had a combination of filtering information and lack of understanding [11].
Family communication tools may improve the dissemination of genetic results among family members. With increasing access to mobile phones and devices, mobile technology, such as apps, have become popular methods to share information [19,20,21]. Studies investigated the value of this technology specifically in families and found that it was a valuable tool for parents and their children to communicate sensitive topics that they didn’t feel comfortable discussing in-person [22]. Additionally, this technology facilitates family members being in contact when they are not geographically close [23]. In the healthcare space, mobile technology provides a means of communication to improve health behavior for patients [20]. However, mobile health apps’ patient privacy is questionable. A recent study found that 81% of diabetes apps do not have privacy policies and would share sensitive patient information to third parties without the patient’s permission [24]. Additionally, another study found that 20% (7/35) of health apps would transmit identifiable information over the Internet without encryption [25]. We believe there is an opportunity to leverage mobile technology to increase communication genetic test results between patients and their family members, while protecting their privacy.
We built ShareDNA, a free secure smartphone app, to (1) lower the barrier to sharing genetic test results with family members by sharing test results with anyone contactable by text or email, (2) provide links to educational material and text to explain how to understand the results and proper next steps for recipients, and (3) increase security of patient data by allowing for encrypted transmission and minimizing the amount of data needed to register for the app. Here we describe the development of the ShareDNA app, and the results of user testing to inform usability and acceptance.
