Similar Results in Human Geneticists’ Practices

The results of the prospective study (1) are mostly consistent with my results obtained over the same time period in our statutory health insurance physician’s practice: since the fourth quarter of 2017, I referred from a total of 4400 treatment contacts 385 to mendeliome or exome analysis (2398—19 433 genes)—without a case conference. Confirmation of genetic variants of pathogenic classes 4 or 5 (2) yielded a rate of 107 diagnoses (28%); 32% in n = 145 ≤ 18-year-olds and 25% in n = 240 >18-year-olds. Most of the diagnoses—almost without exception from the groups of ultra-rare and rare diseases—were identified only once. Few of the diagnoses were identified more than once. In addition to my own clinical-genetic findings, I have available for my consultations the telephone, prior findings from social pediatric centers (Sozialpädiatrische Zentren, SPZ), specialist ambulances, hospitals, and statutory health insurance physicians’ practices. The spectacular diagnosis rates in the classic-genetic proportion of rare diseases (75–80%) are based primarily on the relatively new technique of exome analysis. This technology is available to all 136 German practices and outpatient clinics offering genetic consultations (3, 4). The rightly criticized (1) diagnostic odyssey could in my opinion be avoided by timely referral to a genetic consultation. We can assume that the 14 850 (sic!) case conferences (1) in the 10 participating centers consumed substantial resources, despite which 70% of cases remained undiagnosed (1). It would be wrong and uneconomical to perpetuate such an approach in statutory health care funded by members’ contributions. Multidisciplinary case conferences in genome sequencing have now even become required by law (§ 64e SGB [social code] V). The data cited in (1) collected internationally and from German statutory health insurance practices (4) show that the same diagnostic success rate as in (1) can be achieved entirely without case conferences. The obvious suggestion is that human genetic consultations be offered close to people’s residences and as a step before accessing the centers for rare diseases.