Improving Genetic Counseling with Digital Tools

Cascade genetic testing plays a crucial role in identifying treatable inherited diseases, which can affect families from one generation to the next. After a disease-causing genetic variant is found in a person (often referred to as a proband), testing is recommended for relatives who may also be at risk. This approach is particularly important in the Netherlands, where family members are encouraged to discuss genetic diseases and testing options with each other, aided by letters from Healthcare Professionals.

Despite the clear benefits of this testing—such as reduced illness and higher survival rates—only about 40% to 60% of people at risk choose to seek Genetic Counseling. This implies that many individuals miss the opportunity to understand their genetic risks and make informed health decisions.

#Challenges in Genetic Counseling

Several barriers prevent family members from receiving necessary information about genetic risks. These barriers may include family dynamics, lack of knowledge about genetics, practical issues such as financial constraints, and fears about discrimination from insurance companies.

Digital solutions are receiving attention as a way to improve the accessibility of genetic counseling. Tools range from chatbots and decision aids to platforms for counseling before and after tests. However, the introduction of these Digital Tools raises questions about fairness, effectiveness, and user involvement.

#Perspectives of Stakeholders

The main players in genetic counseling include probands, at-risk relatives (ARR), and healthcare professionals (HCP). Listening to their opinions about digital tools is key to integrating technology effectively into genetic care. However, research on these perspectives remains limited.

A previous study with patients showed that many were open to using a chatbot for follow-ups and sharing genetic test results with their relatives, although they raised privacy and usability issues. It is not yet clear how people from different backgrounds or healthcare providers view digital tools designed for family communication around genetic testing, especially in the context of inherited heart diseases.

#Study Focus

This study aims to gather insights into how probands, ARR, and HCP feel about digital counseling tools. It seeks to help improve communication among families and support pre- and post-test counseling related to inherited heart diseases.

#Research Methodology

The research used group discussions to explore stakeholder attitudes and perspectives. Seven focus groups were held with probands, ARR, and HCP to gather varied opinions. Participants were selected based on specific criteria and were divided into groups to ensure meaningful discussions.

During these focus groups, participants were encouraged to share their views on various aspects of digital genetic services. Topics included family communication about genetic risks, how digital tools could aid Decision-making, and the general role of digital technology in genetic counseling.

#Key Findings from Focus Groups

#General Attitudes Towards Digital Tools

Participants generally had a positive attitude towards using digital tools in genetic counseling. Stakeholders felt that digital methods could enhance communication and accessibility, particularly for younger family members. However, concerns were raised about the lack of personal interaction that digital methods might bring to pre- and post-testing conversations.

#Design Considerations for Digital Tools

When it comes to designing digital tools, stakeholders agreed that it’s essential to consider the audience. Some argued that the severity and treatment options of specific genetic conditions should guide decisions on what information to share digitally. They believed that certain conditions could benefit from digital information sharing, while others might require more personalized approaches.

Interestingly, everyone recognized that not all family members have the same comfort level with technology. So, a one-size-fits-all approach wouldn’t work. Participants suggested that interactive features, like questionnaires, could help cater to various needs.

#Digital Literacy and Accessibility

The discussion revealed that digital tools might lower the barriers for many people to access genetic counseling. Many participants believed that initiating contact with healthcare providers would be easier in a digital setting. However, it was also pointed out that those already comfortable with technology might benefit more from digital solutions.

There was a consensus that elderly individuals or those with limited digital skills might find these tools less helpful. Stakeholders believed that to ensure fair access to genetic counseling, providers of digital tools need to recognize and assist those with fewer skills.

#Impact on Family Communication

Participants highlighted that the current communication in cascade testing heavily relies on individuals informing their relatives. This can put significant pressure on family members who might feel unprepared to answer difficult questions. Digital tools could help lighten this burden by providing relatives direct access to important information.

However, there were concerns that over-reliance on digital tools might reduce opportunities for healthcare providers to support families during sensitive moments.

#Decision-Making and Information Quality

The focus groups discussed the importance of providing tailored information through digital tools. Participants emphasized that it should be easy to understand and accessible, with the option to explore more complex details if needed.

At the same time, there were worries about the trustworthiness of information delivered through digital means. Many felt that being informed of genetic risks via a well-established digital service could be more trustworthy than family-driven discussions, which could be influenced by emotions and dynamics.

Participants noted the importance of allowing time for reflection before making decisions about genetic testing, arguing that digital pathways might encourage hasty choices. They suggested that digital tools should remind users to take their time and think things through thoroughly before consenting to tests.

#Importance of Human Contact

While digital tools can provide valuable information, participants expressed that the personal touch of human interaction is irreplaceable in healthcare. Direct contact enhances understanding, emotional support, and the overall quality of care. Many stakeholders believed that having the option for face-to-face meetings, alongside digital tools, is essential for effective counseling.

Healthcare providers emphasized the necessity of human empathy and understanding when discussing sensitive topics, such as genetic results. Participants felt that while digital tools could provide factual information, they cannot replace the nuanced care that healthcare professionals offer.

#Effect on the Genetic Care System

The integration of digital tools is likely to change the roles of genetic healthcare providers. Some healthcare professionals worried about how digital counseling might redefine their professional identities and lead to job dissatisfaction. They argued that while digital tools can improve efficiency, their unique contributions might be overlooked.

Everyone agreed that healthcare providers must ensure the quality of information provided through digital channels. They also discussed the importance of involving professionals in the development of these digital tools, so that they can accurately respond to concerns and support individuals as necessary.

#Conclusion and Future Directions

The focus group study suggests that there are clear advantages to using digital tools in the context of cascade genetic testing. Stakeholders see benefits such as improved information access, reduced waiting times, and the ability to access services conveniently from home.

However, concerns remain about maintaining personal connections and the quality of care. It's essential that while embracing digital solutions, care providers do not overlook the importance of human involvement in the genetic counseling process.

Moving forward, more research is needed to clarify how to best integrate digital tools within genetic care while addressing stakeholders' concerns. The aim should be to protect the integrity of genetic counseling while making it accessible to everyone, regardless of their digital skills.

The findings of this study could serve as a foundation for future efforts to develop tools that enhance the genetic counseling experience. In the end, a good balance between technology and human interaction may be the key to improving genetic healthcare for everyone involved. Because, let's be honest, who doesn't want to click a button to get answers, but still have a friendly face to turn to when it really counts?