Abstract Body

Background and purpose

Well-validated tools for collecting family history can enable risk assessment for specific disease groups.

The purpose of this study was to determine high genetic risk for monogenetic and multifactorial diseases with an important genetic component in a population of people without medically proven chronic diseases, solely by an algorithm developed for this purpose.

Methods

A cross-sectional study in 40 Slovenian purposively sampled family medicine practices (FMPs) was carried-out in 2019. The participants came to FMPs for a preventive examination (30 for each FMP) and completed a questionnaire covering the basic demographic data. An algorithm using a Three-generation family history on monogenetic and complex genetic diseases was developed for genetic risk assessment, risk was categorised as average, moderate or high.

Results

There were 1,041 participants in this study, aged 42.7 ± 8.4 years; of all, 366 (35.2%) were males.

High genetic risk for any of studied disease was detected in 183 (17.6%) participants. High genetic risk for cancer, familiar hypercholesterolemia, and/or cardiovascular disease were assessed most often. However, these patients were previously not detected through common clinical management.

Conclusions

Our study offered prevalence data on genetic risk based on Three-generational family history for most of the diseases with a genetic component. The tool, which was developed in this study, showed potential for a great clinical usefulness; further validations will prove its efficiency and contribution in a patient-centered healthcare.

Abstract Body

The COVID-19 pandemic forced primary care practices to accommodate digital remote care in order to make healthcare services available to the population. Reports showed that the first months after the start of the pandemic were 140 times higher compared to pre-pandemic visits.

There are many quality and safety issues with that kind of care. I would like to point out one: that is inverse care. The inverse care law states that the availability of good medical care tends to vary inversely with the need of the population served. This is becoming an issue also with digital remote care. Young and technically skilled people use digital remote care more and more often, usually for self-limiting problems, anytime day or night. Family physicians use more and more time to cope with their demands, are at risk of overlooking a serious problem and of providing overtreatment. On the other hand, less time is available for elderly and chronic patients, which can lead to foregone care and undertreatment. If I'm exaggerating a little; there is a danger that health care will be given to those who send a lot of emails and not to those that really need it.

Now, after more than one year of the pandemic, it is becoming clear that digital remote care will stay in our practices even after the pandemic will be over. It is our responsibility to provide evidence about patients’ access, quality of the services provided, clinical outcomes, the effectiveness of the care, and patients’ and providers’ expectations and experiences. We need to develop new models of care with clearly defined situations that can be managed remotely, but would still follow six main quality domains: safety, timeliness, effectiveness, efficiency, equity, and patient-centredness.