Article authored and provided by TrakGene as part of a paid partnership with NSGC. The content, views and opinions expressed in this article are those of TrakGene, and do not necessarily reflect the opinions and views of the National Society of Genetic Counselors.
Family history has always been valuable in patient care. Today, it is more important than ever, thanks in large measure to the increasingly important role that genetics plays in medicine. Pharmacogenetics, for example, is a relatively new branch of pharmacology with a long history that has gained mainstream attention in just the last few years.
To know the family is to know the patient, a simple concept, yet its application in genetic counseling is often complicated.
Family history data is constantly changing, growing as families grow. The recent surge in demand for genetic counseling has triggered a tidal wave of data that needs to be collected, organized, and regularly updated. This is a challenging and time-consuming undertaking without automation technologies and analytics tools.
The patient-focused Family History Questionnaire (FHQ) is an innovative solution for aggregating and organizing family history data.
The FHQ can be completed in the comfort of the patient’s own home and with input from family members, which allows the patient to capture as much family history as possible. It provides an opportunity for patients to initiate health conversations with their relatives and facilitates information sharing, essential in helping the genetic counselor ensure rapid diagnosis and avoid duplicative work.
Lack of familial medical data sharing usually translates to wasted resources. New genetic investigations, for example, are often initiated for multiple family members, though a diagnosis already is known and documented in separate medical records. In the pharmacogenomics setting, without data sharing, doctors have administered medications shown to be ineffective for another family member, consequently prolonging treatment for their patient and increasing cost.
It's a common assumption that people want to be extremely private with their medical data. However, the opposite may be true in many cases.
Genetic counselors often find that people in families with known genetic conditions are very willing to share their medical history data if it is going to help loved ones. Sharing family history sometimes gives patients a greater sense of autonomy over their own medical record.
There are other concerns in medical data sharing, beyond the patient’s willingness to disclose their medical history, including its impact on a patient’s insurance eligibility. Insurers use factors like the medical history of the patient’s parents and siblings to determine their life insurance health classification and potentially assign higher premium fees.
There is limited scope for treating the family rather than the individual as the patient, but pedigree drawing tools make it more possible.
Most Electronic Medical Record (EMR) systems prohibit or do not have the capability to capture and store pedigrees that may be edited over time and shared between family members. Pedigree data is well hidden behind privacy barriers so that the data is available for care of the current patient only and not for family members.
Pedigree drawing tools allow the comprehensive collection of all family member medical history details and, most importantly, make this information easily searchable by genetics experts to identify risk and prevent disease. Unlike hand drawn pedigrees that store static, non-searchable, and often outdated data, pedigree drawing tools automate the data collection and sharing process, thus facilitating interpretation of the patient's medical history, and expediting diagnosis and treatment.
The ability to assess entire families enables genetic counselors to learn about any testing that has already taken place to avoid repetitive lab work and save significant resources and cost.
As family medical history becomes increasingly integral to quality patient care, pedigree drawing tools have made the comprehensive capture of this data much more effective, sustainable, convenient, and efficient for genetic counselors and their patients.
Learn more at https://www.trakgene.com/genetic-counseling-pedigree-charts/
KATHRYN VAN DIEMEN, BSC, GENETICS, MICROBIOLOGY is the Chief Operating Officer at TrakGene Pty Ltd, a Leading Pedigree Drawing Tool and Clinical Genetics Database Software used around the world by geneticists and genetic counselors. Kathryn has a Graduate Diploma in Genetic Counselling from Charles Sturt University. At TrakGene she manages all user support and training and works on design of new features, product development, and integration projects to best meet the needs of genetic counsellors.