Interobserver agreement on definition of the target volume in stereotactic radiotherapy for pancreatic adenocarcinoma using different imaging modalities.

PURPOSE: The aim of this study was to evaluate interobserver agreement (IOA) on target volume definition for pancreatic cancer (PACA) within the Radiosurgery and Stereotactic Radiotherapy Working Group of the German Society of Radiation Oncology (DEGRO) and to identify the influence of imaging modalities on the definition of the target volumes. METHODS: Two cases of locally advanced PACA and one local recurrence were selected from a large SBRT database. Delineation was based on either a planning 4D CT with or without (w/wo) IV contrast, w/wo PET/CT, and w/wo diagnostic MRI. Novel compared to other studies, a combination of four metrics was used to integrate several aspects of target volume segmentation: the Dice coefficient (DSC), the Hausdorff distance (HD), the probabilistic distance (PBD), and the volumetric similarity (VS). RESULTS: For all three GTVs, the median DSC was 0.75 (range 0.17-0.95), the median HD 15 (range 3.22-67.11) mm, the median PBD 0.33 (range 0.06-4.86), and the median VS was 0.88 (range 0.31-1). For ITVs and PTVs the results were similar. When comparing the imaging modalities for delineation, the best agreement for the GTV was achieved using PET/CT, and for the ITV and PTV using 4D PET/CT, in treatment position with abdominal compression. CONCLUSION: Overall, there was good GTV agreement (DSC). Combined metrics appeared to allow a more valid detection of interobserver variation. For SBRT, either 4D PET/CT or 3D PET/CT in treatment position with abdominal compression leads to better agreement and should be considered as a very useful imaging modality for the definition of treatment volumes in pancreatic SBRT. Contouring does not appear to be the weakest link in the treatment planning chain of SBRT for PACA.

Metal-containing landfills as a source of antibiotic tolerance.

To unveil the potential effect of metal presence to antibiotic tolerance proliferation, four sites of surface landfills containing tailings from metal processing in Slovakia (Hnústa, Hodrusa, Kosice) and Poland (Tarnowskie Góry) were investigated. Tolerance and multitolerance to selected metals (Cu, Ni, Pb, Fe, Zn, Cd) and antibiotics (ampicillin, tetracycline, chloramphenicol, and kanamycin) and interrelationships between them were evaluated. A low bacterial diversity (Shannon-Wiener index from 0.83 to 2.263) was detected in all sampling sites. Gram-positive bacteria, mostly belonging to the phylum Actinobacteria, dominated in three of the four sampling sites. The recorded percentages of tolerant bacterial isolates varied considerably for antibiotics and metals from 0 to 57% and 0.8 to 47%, respectively, among the sampling sites. Tolerances to chloramphenicol (45-57%) and kanamycin (32-45%) were found in three sites. Multitolerance to several metals and antibiotics in the range of 24 to 48% was recorded for three sites. A significant positive correlation (p < 0.05) for the co-occurrence of tolerance to each studied metal and at least one of the antibiotics was observed. Exposure time to the metal (landfill duration) was an important factor for the development of metal- as well as antibiotic-tolerant isolates. The results show that metal-contaminated sites represent a significant threat for human health not only for their toxic effects but also for their pressure to antibiotic tolerance spread in the environment.

Improving interinstitutional and intertechnology consistency of pulmonary SBRT by dose prescription to the mean internal target volume dose.

PURPOSE: Dose, fractionation, normalization and the dose profile inside the target volume vary substantially in pulmonary stereotactic body radiotherapy (SBRT) between different institutions and SBRT technologies. Published planning studies have shown large variations of the mean dose in planning target volume (PTV) and gross tumor volume (GTV) or internal target volume (ITV) when dose prescription is performed to the PTV covering isodose. This planning study investigated whether dose prescription to the mean dose of the ITV improves consistency in pulmonary SBRT dose distributions. MATERIALS AND METHODS: This was a multi-institutional planning study by the German Society of Radiation Oncology (DEGRO) working group Radiosurgery and Stereotactic Radiotherapy. CT images and structures of ITV, PTV and all relevant organs at risk (OAR) for two patients with early stage non-small cell lung cancer (NSCLC) were distributed to all participating institutions. Each institute created a treatment plan with the technique commonly used in the institute for lung SBRT. The specified dose fractionation was 3â€¯× 21.5 Gy normalized to the mean ITV dose. Additional dose objectives for target volumes and OAR were provided. RESULTS: In all, 52 plans from 25 institutions were included in this analysis: 8 robotic radiosurgery (RRS), 34 intensity-modulated (MOD), and 10 3D-conformal (3D) radiation therapy plans. The distribution of the mean dose in the PTV did not differ significantly between the two patients (median 56.9 Gy vs 56.6 Gy). There was only a small difference between the techniques, with RRS having the lowest mean PTV dose with a median of 55.9 Gy followed by MOD plans with 56.7 Gy and 3D plans with 57.4 Gy having the highest. For the different organs at risk no significant difference between the techniques could be found. CONCLUSIONS: This planning study pointed out that multiparameter dose prescription including normalization on the mean ITV dose in combination with detailed objectives for the PTV and ITV achieve consistent dose distributions for peripheral lung tumors in combination with an ITV concept between different delivery techniques and across institutions.

Time management in radiation oncology: evaluation of time, attendance of medical staff, and resources during radiotherapy for prostate cancer: the DEGRO-QUIRO trial.

PURPOSE: In order to evaluate resource requirements, the German Society of Radiation Oncology (DEGRO) recorded the times needed for core procedures in the radio-oncological treatment of various cancer types within the scope of its QUIRO trial. The present study investigated the personnel and infrastructural resources required in radiotherapy of prostate cancer. METHODS: The investigation was carried out in the setting of definitive radiotherapy of prostate cancer patients between July and October 2008 at two radiotherapy centers, both with well-trained staff and modern technical facilities at their disposal. Personnel attendance times and room occupancy times required for core procedures (modules) were each measured prospectively by two independently trained observers using time measurements differentiated on the basis of professional group (physician, physicist, and technician), 3D conformal (3D-cRT), and intensity-modulated radiotherapy (IMRT). RESULTS: Total time requirements of 983 min for 3D-cRT and 1485 min for step-and-shoot IMRT were measured for the technician (in terms of professional group) in all modules recorded and over the entire course of radiotherapy for prostate cancer (72-76 Gy). Times needed for the medical specialist/physician were 255 min (3D-cRT) and 271 min (IMRT), times of the physicist were 181 min (3D-cRT) and 213 min (IMRT). The difference in time was significant, although variations in time spans occurred primarily as a result of various problems during patient treatment. CONCLUSION: This investigation has permitted, for the first time, a realistic estimation of average personnel and infrastructural requirements for core procedures in quality-assured definitive radiotherapy of prostate cancer. The increased time needed for IMRT applies to the step-and-shoot procedure with verification measurements for each irradiation planning.

Phylogeny and biogeography of Hydra (Cnidaria: Hydridae) using mitochondrial and nuclear DNA sequences.

The polyp hydra is ubiquitous in freshwater and is highly variable, with many species names assigned to different strains. Types of hydra do fall into four morphologically recognizable groups but many of the species determinations are confusing. To assess the diversity of hydra we collected 101 strains from six continents and built a phylogeny using three genetic markers. Each of the four well-defined groups of species represents a clade in our phylogeny. The green hydra group diverged first, followed by the braueri group and finally the sister groups vulgaris and oligactis. Each of eight species easily definable by morphological criteria represents a distinct clade in our phylogeny. Hydra of two clades, the green and the vulgaris hydra, are found on all continents (except Antarctica) and many islands, whereas hydra of the other two groups (braueri and oligactis) are restricted to the Northern Hemisphere. Our best estimate of the time of origin of hydra is about 60 Ma, long after the breakage of Pangea into northern and southern landmasses. Hydra appear to have diversified in the Northern Hemisphere, and their current diversity is greatest here. Two species were then able to disperse to the Southern Hemisphere, perhaps due to their thermal tolerance.

Antepartum percutaneous renal biopsy.

OBJECTIVE: To assess the value and adverse effects of an ultrasound-guided renal biopsy technique in women with normal and pathologic pregnancies. METHOD: Biopsy samples were taken from 36 women with hypertensive disease (28 with pre-eclampsia) and 18 healthy pregnant women using a thin needle and an ultrasound-guided biopsy device. RESULTS: Glomerular endotheliosis, a structural change typical of pre-eclampsia, was found in all hypertensive women, but it was more pronounced in the 28 pre-eclamptic women than in the 8 women with nonproteinuric hypertension. A similar change, however, was seen in 11 of the 18 controls. One serious adverse event occurred, retroperitoneal hematoma, in the woman with the most severe pre-eclampsia. CONCLUSION: Glomerular endotheliosis is not to be considered pathognomonic for pre-eclampsia. Few complications followed renal biopsy in this study, but complications arose in the sickest patient. It is probably not advisable to perform antepartum renal biopsies in pregnant women with a rapidly deteriorating renal function and swollen kidneys. In these women, the biopsy does not facilitate diagnosis and is hazardous.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

OBJECTIVE: To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). METHODS: Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated for loss of filamin A (FLNA) protein and Southern blotting assessed for any potential chromosome rearrangement in this region. RESULTS: The authors report two familial cases and nine additional sporadic cases of the EDS-variant form of PH, which is characterized by nodular brain heterotopia, joint hypermobility, and development of aortic dilatation in early adulthood. MRI typically demonstrated bilateral nodular PH, indistinguishable from PH due to FLNA mutations. Exonic sequencing or SSCP analyses of FLNA revealed a 2762 delG single base pair deletion in one affected female. Another affected female harbored a C116 single point mutation, resulting in an A39G change. A third affected female had a 4147 delG single base pair deletion. One pedigree with no detectable exonic mutation demonstrated positive linkage to the FLNA locus Xq28, an affected individual in this family also had no detectable FLNA protein, but no chromosomal rearrangement was detected. CONCLUSION: These results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.

Influence of the subcutaneous fat layer, as measured by ultrasound, skinfold calipers and BMI, on the EMG amplitude.

Surface electromyography (sEMG) is an important tool to estimate muscular activity at work. There is, however, a great inter-individual variation, even in carefully standardized work tasks. The sEMG signal is attenuated in the subcutaneous tissues, differently for each subject, which requires normalization. This is commonly made in relation to a reference contraction, which by itself, however, introduces a variance. A normalization method that is independent of individual motivation, motor control and pain inhibition would be desirable. The aim of the study was to explore the influence of the subcutaneous tissue thickness on sEMG amplitude. Ultrasound measurements of the muscle to skin surface distance were made bilaterally over the trapezius muscle in 12 females. Skinfold caliper measurements from these sites, as well as from four other sites, were made, body mass index (BMI) was recorded, and sEMG was recorded at maximal and submaximal contractions. The muscle-electrode distance, as measured by ultrasound, explained 33% and 31% (on the dominant and non-dominant sides respectively) of the variance of the sEMG activity at a standardized submaximal contraction (average between the sides, 46%); for maximal contractions the explained variance was 21%. Trapezius skinfold measurements showed poor correlations with sEMG. Instead, the mean of skinfold measurements from other sites explained as much as 68% (submaximal contraction). The corresponding figure for BMI was 67%. In conclusion, skinfold thickness explains a major part of the inter-individual variance in sEMG amplitude, and normalization to this measure is a possibility worth further evaluation.

Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome.

PURPOSE: To present a case of Maroteaux-Lamy syndrome (MLS, mucopolysaccharidosis [MPS] type VI) who underwent bone marrow transplantation (BMT) for gene transfer at the age of 13, and penetrating keratoplasty at the age of 17, and maintained clear corneal grafts bilaterally for 13 years. To our knowledge, this is the longest follow-up reported on corneal graft survival in a patient with MLS and BMT. METHODS: In 1982, BMT was successfully performed on a 13-year-old girl with MLS with growth retardation, typical facial features, skeletal and joint deformities, hepatosplenomegaly, cardiopulmonary dysfunction, and corneal clouding. Corneal transplantation was done on the left eye in 1986, and on the right eye in 1987 (6 months later) without difficulty or complication. RESULTS: Thirteen years postoperatively, the patient was systemically well, and both eyes retained clear corneal grafts. CONCLUSION: BMT retarded further dysfunction from MLS, and the corneal transplants retained clarity. Further controlled studies with longer follow-up are required to establish the efficacy of BMT in ocular manifestations of MPS or MLS.

Soft X-ray therapy of recurrent pterygium--an alternative to 90Sr eye applicators.

BACKGROUND: Analysis of effectiveness of perioperative 20 kV soft X-ray irradiation in recurrent pterygium as an alternative to postoperative 90Sr beta irradiation. PATIENTS AND METHODS: Between 1987 and 2000 a total of 65 patients with 81 pterygia were treated with 20 kV X-ray therapy in the course of surgical treatment of recurrent pterygium. Until 1995 simple excision (bare sclera technique) followed by postoperative irradiation (generally four fractions of 5 Gy) was applied, with radiation starting on mean 4 days following surgery (34 cases, mean follow-up 52 months). Since 1995 we have changed our policy to a perioperative regimen starting with a single dose of 7 Gy prior to microsurgical excision with conjunctival autograft and proceeding within 24 hours with 5 Gy single dose to the surgical bed and then every other day to a total dose of 27 Gy (47 cases, mean follow-up 31 months). Recurrence rate was calculated by Kaplan Meier method. A multivariate Cox regression analysis of prognostic factors for recurrence was performed. RESULTS: A total of 19 recurrences were observed, 15 in the historical postoperative group and four in the perioperative group. Actuarial 2- and 5-year recurrence rate is 9% in the "new treatment group" compared to 34% and 56% in the historical group (p = 0.001). Only one of the four recurrences among the pre- and postoperatively irradiated group required a new surgical procedure. In this case radiation had been terminated at 17 Gy. Actuarial rate of surgical reintervention was only 2% at 2 and 5 years compared to 28% and 36% in the historical group. In multivariate Cox regression analysis only the new treatment strategy was found to influence control rate significantly. Until now no case of severe side effects like scleral necrosis or thinning, symble-pharon, radiation-induced cataract or glaucoma were observed in both groups. CONCLUSION: The combination of pre- and postoperative 20 kV X-ray therapy and microsurgical excision combined with conjunctival autograft is a highly effective treatment to prevent recurrence in the high-risk group of recurrent pterygia and can be recommended as an alternative to postoperative 90Sr beta irradiation.

Sequential chemo-radiotherapy in non-small cell lung cancer.

Locally advanced non-small cell lung cancer (NSCLC) stage IIIA/IIIB represents approximately 30% of NSCLC and still has a poor prognosis. In this article we give a short review on several randomized phase III trials that showed a slight but significant survival benefit for sequential chemo-radiotherapy in the treatment of locally advanced NSCLC.

[Carcinoma of the external ear canal and middle ear as interdisciplinary challenge for ear surgery and radiotherapy]. / Das Karzinom des äusseren Gehörgangs und des Mittelohres als interdisziplinäre Herausforderung für Otochirurgie und Strahlentherapie.

BACKGROUND: Carcinoma of the external auditory canal are tumours considered to have a poor prognosis. Improvement of the survival rate by surgical means alone is not possible. Individual therapy modalities as a result of an interdisciplinary approach between otosurgeon and radiotherapist are necessary. PATIENTS AND METHODS: A series of 30 patients (3 patients pretreated at other institutions) with carcinoma of the external auditory canal and middle ear treated between 1978 and 1997 in our institutions was analysed with particular reference to tumour size and its relation to surrounding tissues, patterns of neck node involvement, surgical procedures, and radiation techniques. Clinical endpoints were freedom from local failure, overall survival, disease-free survival. The mean follow-up was 4.7 years (range: 0.1 to 18.8 years), median 3 years. RESULTS: Treatment by surgery and radiotherapy resulted in an overall 5-year survival rate of 51%. According to Pittsburgh classification the 5-year survival rate for early disease (T1- and T2-tumours) was 89%, for stage III 67% and for stage IV 39%. Most important prognostic factors were dural infiltration (all patients with dural invasion died within 2.2 years) and the infiltration of surgical margins (the 5-year survival rate of patients with complete tumour resection was 100%, but 54% in patients with tumour beyond surgical margins). 192-iridium HDR afterloading brachytherapy based on 3D CT-treatment planning is an effective tool in the management of local recurrences following surgery and a full course of external beam radiotherapy. CONCLUSIONS: Surgical resection followed by radiotherapy adapted to the stage of disease and grade of resection is the preferred treatment of cancer of the external auditory canal and middle ear.

Sequential chemo- and radiochemotherapy with weekly paclitaxel (Taxol) and 3D-conformal radiotherapy of stage III inoperable non-small cell lung cancer. Results of a dose escalation study.

The purpose of this study was the determination of the maximum tolerable dose (MTD) of weekly paclitaxel (PX) in combination with 3D-conformal radiotherapy in non-small cell lung cancer (NSCLC) and the evaluation of side effects, patient outcome and tumor response. Thirty-eight patients with inoperable NSCLC, UICC-stage IIIA (n=14)/IIIB (n=24) received two cycles of induction chemotherapy with PX/carboplatin followed by combined radiochemotherapy (60 Gy/6 weeks) with weekly PX which was escalated in cohorts of four patients until dose limiting toxicity (DLT) was reached. Starting level was 40 mg/m(2). 3D-conformal radiotherapy was applied in all patients. Toxicity was determined by WHO criteria. Patients were followed-up 3-monthly. Thirty eight patients have entered the study, 34 patients are evaluable. DLT was esophagitis III degrees, requiring interruption of radiotherapy and was reached at the PX 70 mg/m(2). Two hypersensitivity reactions (50 mg/m(2)) and one leucopenia III degrees (60 mg/m(2)) were observed. Only one patient (60 mg/m(2), 50 Gy) completely aborted treatment. The pneumonitis rate was between 21 and 36% but showed no clear correlation with PX dose. Tumor response (PR and CR) defined by CT-scan 6 weeks following radiotherapy was 88% (30/34). The 1- and 2-year survival rate is 73% and 34%. We conclude that the MTD of weekly PX with 60 Gy normofractionated radiotherapy is 60 mg/m(2). The DLT is esophagitis. Response and survival data of this sequential/combined approach are promising. A minor increase of pulmonary toxicity of irradiation is suspected.

Renal structures in type 2 diabetic patients with elevated albumin excretion rate.

Renal biopsies were obtained from type 2 diabetic patients with elevated albumin excretion. The aim was to obtain quantitative structural data to correlate with clinical findings. Biopsies from 27 diabetic patients and 12 non-diabetic cases were analysed. Stereological methods were applied by light- and electron microscopy. Diabetic patients showed quantitatively markedly expressed diabetic glomerulopathy, but also an increase in glomerular volume, in prevalence of new-vessel formation at the vascular pole, prevalence of glomerular occlusion and in interstitial volume fraction. A significant correlation was not observed between the degree of interstitial and glomerular involvement. The glomerular hypertrophy is interpreted as a compensatory phenomenon, leading to preservation of filtration surface in the open glomeruli. Close correlation was seen between glomerulopathy and glomerular function, and also with the stage of retinopathy. New vessel formation at the vascular pole was most frequent in patients with proliferative retinopathy. Signs of non-diabetic glomerulopathy were not observed, but various atypical ultrastructural changes accompanying the advanced stages are illustrated. Our present findings correspond to data from type I diabetic patients. It is emphasised that all compartments of the kidney are affected by the diabetic state. It is suggested that the interstitial and glomerular lesions are influenced by different factors.

The influence of the radicality of resection and dose of postoperative radiation therapy on local control and survival in carcinomas of the upper aerodigestive tract.

PURPOSE: To evaluate dose concepts in postoperative irradiation of carcinomas of the upper aerodigestive tract according to the radicality of resection. PATIENTS AND METHODS: In a retrospective analysis, the charts of 257 patients with histologically-proven carcinoma of the upper aerodigestive tract (40 T1, 80 T2, 53 T3, 84 T4 tumors, with nodal involvement in 181 cases) were reviewed according to the radicality of resection and dose of irradiation administered. Sixty-four patients had tumor-free resection margins (> 3 mm), 66 patients had close resection margins (< 3 mm), and 101 patients had R1 resections, and 26 patients had R2 resections. A median dose of 56 Gy was applied to the primary tumor bed and the cervical lymphatics (2 Gy/fraction, 5 fractions/week). In cases of R1 or R2 resection, or of close margins (< 3 mm), the tumor bed or, respectively, tumor residuals were boosted with doses up to a median of 66 Gy. Locoregional tumor control and survival was investigated by uni- and multivariate analyses according to T-, N-stage, grade of resection, total dose of radiation, and presence or absence of extracapsular tumor spread and lymphangiosis carcinomatosa. RESULTS: An overall 3- and 5-year survival rate of 60% and 45%, respectively, was achieved. Rates for freedom from locoregional recurrence were 77% and 72% at 3 and 5 years, respectively. The survival rates according to the grade of resection at 5 years were 67% for patients resected with tumor-free margins, 59% for patients resected with close margins, 26% for patients with R1 resection, and 27% for patients with R2 resection. Within a median follow-up period of 4.7 years for living patients, a total of 67 recurrences (26%) were observed (in 9% of patients resected with tumor-free margins, in 27% with close margins, in 37% of R1 resected, and in 19% of R2 resected patients). Freedom from locoregional recurrence at 3 years was achieved in 100% of the patients resected with tumor-free margins, in 92% of patients resected with close surgical margins, in 87% of R1 and 69% of R2 resected patients. In multivariate Cox-regression analysis, the variables grade of resection (p = 0.00031) and total dose of irradiation (p = 0.0046) were found as factors influencing locoregional control. Variables influencing survival according to multivariate analysis are T-stage (p = 0.0057), N-stage (p = 0.024), grade of resection (p = 0.000015), total dose of irradiation (p < 0. 000000). Extracapsular tumor spread and lymphangiosis carcinomatosa are factors of borderline significance (p = 0.055, p = 0.066). CONCLUSION: In postoperative radiotherapy of head and neck carcinomas, doses adapted to the risk of locoregional recurrent disease should be applied. Patients with R1 and R2 resections should be treated with doses of more than 68 Gy (2 Gy/fraction, 5 fractions/week) (with close margins [< 3 mm] more than 66 Gy) to achieve an improvement in locoregional control and survival.

The postoperative adjuvant radiation therapy and radiochemotherapy for UICC stage II and III rectal cancer. A retrospective analysis.

AIM: This analysis was undertaken to review the outcome and toxicity of postoperative adjuvant therapy for Stage II and III rectal cancer. PATIENTS AND METHODS: We reviewed 112 patients treated with radiotherapy (44 patients) and radiochemotherapy (68 patients) after potentially curative (R0) surgery for rectal cancer (UICC Stages II and III), between 1983 and 1994 at the University Clinic of Würzburg. Median radiation dose was 56 Gy (range: 45 to 66 Gy). Chemotherapy consisted of 4 to 6 courses of 5-fluorouracil (5-FU) (420 mg/m2/d) and leucovorin (200 mg/m2/d). Median follow-up was 37 months. RESULTS: The overall survival was 84% for patients with UICC Stage II and 45% for patients with UICC Stage III disease (p = 0.0045). There were no statistically significant differences between patients treated with radiochemotherapy vs radiotherapy in terms of 5-year survival (63% after radiochemotherapy vs 53% after radiotherapy, p = 0.16), relapse-free survival (52% vs 50%) and locoregional control (69% vs 67%). UICC Stage III disease was associated with high failure rates (40% pelvic recurrences and 53% distant metastases). There was a statistically significant difference in terms of the incidence of distant metastases between the 2 treatment modalities for patients with Stage III disease (49% 5-year probability for developing distant metastases after radiochemotherapy vs 66% after radiotherapy, p = 0.047). In a multivariate analysis, the addition of chemotherapy, lymph node stage and grading were independent prognostic factors for survival. Severe late toxicity was documented in 5% of treated patients. CONCLUSIONS: Prognosis of patients with UICC Stage III rectal cancer remains poor after "standard" surgery followed by postoperative adjuvant treatment (pelvic radiotherapy and bolus intravenous injection of 5-FU and leucovorin). Major efforts should be made in order to improve prognosis for these patients, including optimization of surgical treatment and systemic treatment. More effective multimodality treatment strategies should be investigated in prospective randomized trials.

Genetic testing: a physician's perspective.

Progress in DNA diagnostics has been extremely rapid. We sought to determine attitudes, awareness, and knowledge of genetic testing by physicians affiliated with the Mount Sinai Medical Center. We surveyed 363 physicians within whose fields genetic testing for various diseases and disorders exist. Physicians' awareness of and opinions regarding testing, attitudes toward counseling, knowledge of the field, and interest in further education were assessed. Three hundred forty-one (341) physicians were determined to be eligible for the study and, of these, 89 (26%) returned completed surveys. Of the respondents, 71% rated their knowledge of genetics and genetic testing as "fair" to "poor"; only 37% read articles concerning genetic testing on a regular basis. Physician awareness of currently available testing produced a bell-shaped distribution. Knowledge regarding Mendelian genetics yielded a bimodal distribution, and knowledge reflecting an understanding of the mechanics behind genetic testing produced a bell-like curve, skewed to the right. Those who identified themselves as practicing within an "academic" setting scored significantly higher on the Mendelian genetics and testing mechanics sections than those practicing in a "private" setting. Ninety-eight percent (98%) of the physicians said they would refer their patients to a genetic counselor. Although 91% of the respondents were aware of the existence of genetic counseling services, only 71% were aware of the services available at major New York medical centers. Of those aware of counseling services, 53% had referred a patient to them, and 83% of those who referred were "mostly" to "very" satisfied with the counseling. Ninety-five percent (95%) of the physicians believed that the doctor, among others, has the responsibility to counsel patients about genetic testing, yet only 51% felt that they had the time. No statistically significant preference was found concerning the methods for gaining further education or information about genetic testing. Further education for physicians is required in order for them to accurately convey the risks and benefits of genetic testing to their patients. Furthermore, awareness of the counseling services available within the New York area needs to be heightened in order to provide physicians and patients with the specific services they desire. The most efficient and effective methods for providing information and for heightening awareness need to be determined through additional research.