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Reimagining the Genetic Consultation

Objective: Develop innovative ways to enable medical geneticists to see priority patients more quickly — especially given the growing shortage of geneticists.


An estimated 80% of rare diseases are genetic in origin, which means that undiagnosed patients are largely dependent on medical geneticists to facilitate diagnosis. However, even in the United States, it takes a patient on average between three and nine months to be seen by a geneticist[7], assuming one is even available.

Across the world, the situation is even more dire. The demand for geneticists’ services vastly exceeds the supply, and this trend will undoubtedly continue. The significant shortage of geneticists leads to high workloads that further impede these specialists’ ability to see patients, significantly delaying diagnosis of a rare genetic disease. The situation is much worse for patients living outside of urban areas or far from academic medical centers. Additionally, the way that geneticists have practiced historically may not be optimal in terms of efficiency. In general, this situation applies to any service that specializes in one of the rare diseases.

Strategies to shorten the time to receive a genetic consultation – which can be extreme in many countries – is essential to accelerate diagnosis.

Reimagining the diagnostic path and the role of the geneticist can significantly reduce bottlenecks on the patient journey.



Prioritizing the needs of patients and shifting select responsibilities from overburdened geneticists to other qualified healthcare professionals has the potential to streamline current processes and get patients in the door faster.

How it would work

As part of making a referral for a genetic consultation, The Global Commission recommends that frontline providers input essential patient data into a digital system that collects data in a standardized way. The physicians also order any additional tests before a child’s first genetic consultation to ensure that geneticists have the baseline data needed to make informed decisions during the first appointment. Before the appointment, a genetics team reviews the information to understand the child’s symptoms, prior test results, and the reason for the referral.

Because data are collected through a standardized system, these teams can compare data across patients to have a better understanding of potential diagnoses and next steps. The platform collects data from many types of medical record systems and categorizes the information in a consistent format for the reviewer. The team then determines whether a genetic consultation is needed and, if so, which additional tests (i.e. analysis of genome, special biomarkers) should be conducted beforehand and shared with the frontline provider. There is also the option to conduct any pre-test counseling, if that is relevant to the patient’s situation. This type of collaboration results in a more effective and efficient visit with a geneticist, saving valuable time for both the patient and the geneticist.

Effective Prioritization: A function or department within a genetics clinic that works with the patient and referring physician before the appointment to ensure that patients are seen by the most relevant specialist, the appropriate tests are ordered in advance of a visit, and all test results and patient data are available—saving the patient precious time and ultimately accelerating diagnosis.

Ultimately, this technology could be scaled globally, using an artificial intelligence-enabled system to compare larger volumes of data. With sufficient data volume, an automated system could prioritize the most urgent needs of patients with increasing efficiency and accuracy, leading to even more efficient use of geneticists’ limited time and a faster diagnosis.

The Patient Benefit is that patients see specialists sooner, optimize the time spent with the relevant expert, and avoid unproductive appointments.
                    The Physician Benefit are appointments that are more efficient and productive.
                    The Health System Benefit are health professionals that function at optimal levels, reducing backlogs and increasing employee and patient satisfaction.

Why this is promising

Similar approaches have been successfully implemented across many types of clinical practice. In a children’s hospital in Singapore, a combination of clearing back-logged cases, developing referral guidelines, and establishing a comprehensive triaging system reduced the wait time to see physicians at the hospital from 50 days to approximately 27 days.


Creating the system will likely require more staff (case managers, genetic counselors, or similar sub-subspecialties) and development of data systems.


Technology-enabled data capture and greater use of tele-consultations improve access to geneticists and reduce the strain on families to travel for clinic visits.

Current Situation

While "telemedicine" is already widely available, it is not being activated on a large scale to search for a genetic diagnosis and to connect rural patients to rare disease specialists. Patients and caregivers often need to travel far distances and invest significant time and money to attend appointments with pediatricians, primary care physicians, genticists, and other spcialists during the search for a diagnosis. Collecting information remotely and transmitting it to the appropriate physician can reduce the burden on children and families, especially those from rural and remote areas.

How it would work

The parents complete an online form in advance of an initial consultation with a geneticist. This patient-friendly form, designed in collaboration with the end-user, uses simple questions and lay language and encourages parents to fill it out with the help of their primary care or referring physician. Making this information available to a specialist will ensure an informed, productive first visit and may avoid the need for multiple in-person appointments. This will optimize the time and resources of patients, caregivers, and geneticists. The form includes prompts for physician notes and additional information to ensure that appropriate tests or records are sent to the specialty clinic before a virtual consultation takes place as a first appointment to avoid unnecessary travel and time. Only when an in-person visit is deemed essential will the family travel for a physical visit.

Why this is promising

Data suggests that communications technology is effective in improving access to care in remote or rural areas through telemedicine. By making data capture easy for patients and leveraging the expertise of trained healthcare professionals, remote information capture can support patients and caregivers across the continuum of care.

Patients and caregivers are less burdened by travel for a consultation and possible follow-up visits and have access to high-quality care despite their geographic location.
                    Geneticists ensure that appointments are used efficiently and effectively.
                    Data collection is completed before specialty visits, reducing unnecessary or less-productive appointments. More patients are able to access physicians at tertiary care centers.


It is imperative that patients and their parents are supported by adequately-trained healthcare professionals to assist in filling out these digital forms correctly and completely. Families living long distances from these health professionals must be able to access their expertise remotely, meaning either via telephone or video-based telemedicine consultation, which requires an internet connection.