Actionability curations

The summaries provide information on gene-condition pairs that meet a clinical actionability threshold for pathologic variants in the gene, and are prepared using a transparent, systematic, evidence-based process. A protocol guides the summary development, which includes quality rating of the evidence. An expert panel reviews the summaries and applies a semi-quantitative method to score the overall clinical actionability of gene variants discovered incidental to another diagnostic investigation. For scoring, specific intervention-outcome pairs are chosen for each genetic disorder under consideration. Clinical interventions are chosen based on their effectiveness for prevention or delay of clinical disease, lowered clinical burden, or improved clinical outcomes in a previously undiagnosed adult.

Semi-quantitative Metric (SQM)

Category

Levels

Level of Evidence

Severity

3 - sudden death

2 - possible death or major morbidity

1 -  modest morbidity

0 - minimal or no morbidity

NA

Likelihood of Disease

3 - >40% chance

2 - 5-39% chance

1 - 1-4% chance

0 - <1% chance or unknown

A = substantial evidence

B = moderate evidence

C = minimal evidence

D = poor evidence

E = expert contributed evidence

Effectiveness

3 - highly effective
2 - moderately effective
1 - minimally effective

0 - ineffective/no intervention

IN* – ineffective/no intervention

A = substantial evidence

B = moderate evidence

C = minimal evidence

D = poor or conflicting evidence

E = expert contributed evidence

Nature of Intervention

3 - low risk/medically acceptable/ low intensity intervention

2 - moderately acceptable/risk/ intensive interventions

1 - greater risk/less acceptable/ substantial interventions

0 - high risk/poor acceptable/ intensive or no intervention

NA

Gene Condition Outcome / Intervention Pair and Scores Report
Adrenal insufficiency (males only) / Monitoring adrenal hormones with replacement as needed
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Neurological/Cognitive decline / Neurological surveillance to plan initiation of HCT
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 03/07/2018
Surgical complications / High risk surgical and anesthesia management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Perinatal or delivery complications / High risk pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Rhabdomyolysis, muscle cramps, and exercise intolerance / Multidisciplinary care
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Aortic dilation progression / Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Clinically significant aortic aneurysm / Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Sudden Cardiac Death / ICD Implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/11/2018
Anticipatory treatment to avoid PAVM-related morbidity (GDF2) / TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid CAVM-related morbidity (GDF2) / Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4) / TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4) / Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 1-4% chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1) / TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1) / Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 1-4% chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid PAVM-related morbidity (ENG) / TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Anticipatory treatment to avoid CAVM-related morbidity (ENG) / Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Colectomy / Colorectal Cancer
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Greater Risk
View Details - 01/10/2018
Colorectal Cancer / Colectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Greater Risk
View Details - 07/27/2018
Clinical cardiovascular events / Oral hypercholesterolemia treatment to FH appropriate goal
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 05/21/2018
Clinical cardiovascular events / Hypercholesterolemia treatment to FH appropriate goal
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 05/21/2018
Breast cancer (CHEK2) / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Breast cancer (CHEK2) / Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Breast Cancer (ATM) / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Breast Cancer (ATM) / Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 10/30/2017
Neuropsychiatric disease / Chelation/zinc therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Liver disease / Chelation/zinc therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/11/2018
Clear Cell Renal Cell Carcinoma / Abdominal Ultrasound
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Uveal Melanoma / Annual eye exam, including dilated eye exam, by ocular oncologist
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Melanoma / Annual full-body dermatology exam
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Malignant Mesothelioma / Imaging
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
View Details - 11/20/2017
Gastrointestinal cancer / Endoscopic surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/11/2018
Deterioration of pulmonary and cardiac function / Avoidance of exacerbating exposures
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Deterioration of pulmonary and cardiac function / Pharmacotherapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
Deterioration of pulmonary and cardiac function / Annual echocardiogram
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
View Details - 01/29/2018
Ovarian Cancer (BRCA2) / Oophorectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast Cancer (BRCA2) / Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast Cancer (BRCA2) / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Ovarian Cancer (BRCA1) / Oophorectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast Cancer (BRCA1) / Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast Cancer (BRCA1) / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 04/09/2018
Ovarian cancer / Oophorectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 1-4% chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
View Details - 10/06/2017
Cutaneous manifestations / Biotin therapy
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Neurological complications / Biotin therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Morbidity from malignant hyperthermia event / Avoidance of triggering anesthetics
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings / Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
Pyridoxine Non-Responsive: Thromboembolism / Prophylactic anti-coagulation in pregnancy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Pyridoxine Non-Responsive: Thromboembolism / Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) / Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
Pyridoxine Responsive: Thromboembolism / Prophylactic anti-coagulation in pregnancy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Pyridoxine Responsive: Thromboembolism / Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Hemorrhage / Delivery management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
Hemorrhage / MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Hemorrhage / Medication (simvastatin, fasudil)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
View Details - 09/08/2017
Morbidity from advanced renal lesions / Surveillance with renal ultrasound
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Complications of osseous fibromas / Surveillance with panoramic radiograph
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Morbidity from primary hyperparathyroidism / Surveillance of parathyroid hormone and calcium
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Breast cancer / Risk reducing mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast cancer / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Gastric cancer / Risk reducing gastrectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: High Risk
Gastric cancer / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Pancreatic cancer morbidity and/or mortality / Smoking cessation and/or avoidance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Pancreatic cancer morbidity and/or mortality / Periodic pancreatic imaging
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
Melanoma morbidity and/or mortality / Skin surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Vascular or organ rupture or perforation / Avoidance of invasive procedures
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Perinatal complications / High-risk pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Musculoskeletal morbidity / Physical/occupational therapy program
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Infertility/subfertility in females / Glucocorticoid therapy
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
View Details - 07/17/2018
View Details - 06/26/2018
Infertility/subfertility in females / Glucocorticoid therapy
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
View Details - 07/17/2018
Morbidity and mortality from DICER-related cancers / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Morbidity and mortality from pleuropulmonary blastoma / Chest imaging
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 08/02/2018
View Details - 06/26/2018
Earlier heart failure / Surveillance and ACE inhibitors
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Sudden cardiac death / Surveillance and pharmacotherapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Sudden cardiac death / Surveillance and implantable cardiac device (ICD)
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 01/09/2018
Demyelinating peripheral neuropathy / Avoidance of vincristine, paclitaxel, succinylcholine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Demyelinating peripheral neuropathy / Regular medical evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
View Details - 02/05/2018
Sudden cardiac death / Anti-arrhythmic therapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
Sudden cardiac death / ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 10/23/2017
Demyelinating peripheral neuropathy / Avoidance of Vincristine, paclitaxel, succinylcholine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Demyelinating peripheral neuropathy / Regular medical evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
View Details - 02/05/2018
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy / Metabolic evaluation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Complications from anesthesia/surgery / Anesthesia management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Congestive heart failure / Pharmacotherapy/cardiac surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Arrhythmias / Defibrillator/cardiac surveillance
Outcome
Severity: Sudden Death
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Cerebral thromboembolism / Antithrombotic medications
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Scoliosis / Glucocorticoids
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Complications from pregnancy / Pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 04/09/2018
Endometrial Cancer / Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Endometrial Cancer / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
Colorectal cancer / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
VTE / Pharmacological prophylaxis for men and non-pregnant women
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
VTE / Pharmacological prophylaxis for pregnant women
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
VTE / Avoid estrogen-containing compounds that exacerbate VTE risk
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
VTE / Assessment for VTE risk factors
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
View Details - 04/09/2018
Severe or prolonged hemorrhage / Development and implementation of comprehensive management plan based on activity levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 04/02/2018
VTE / Pharmacological prophylaxis
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Greater Risk
VTE / Avoid estrogen-containing compounds that exacerbate VTE risk
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
VTE / Assessment for VTE risk factors
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
View Details - 04/09/2018
Females: Severe/prolonged hemorrhage / Development of comprehensive management plan based on activity levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Males: Severe/prolonged hemorrhage / Development of comprehensive management plan based on activity levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Aortic Dilation Progression / Beta-blockers
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Clinically Significant Aortic Aneurysms / Surveillance
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Advanced uterine pathology / Annual GYN exam
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Renal cancer / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Morbidity and mortality from masses / Imaging to detect renal masses when intervention is effective
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Severe or life-threatening infections / Vaccination and aggressive prevention/treatment of infections
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
Impaired pulmonary function / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Musculoskeletal morbidity / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Musculoskeletal morbidity / Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) / Surveillance and initiation of ERT
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Neurologic crises and functional decline / Management by metabolic clinic
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Neurologic crises and functional decline / Low protein/lysine diet
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
View Details - 11/20/2017
Neuromuscular dysfunction / Avoidance of oral contraceptives
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Neuromuscular dysfunction / Levodopa therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Neuromuscular dysfunction / Regular examinations and surveillance by a movement disorder specialist
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
View Details - 01/11/2018
Pain crises (females) / Enzyme replacement therapy
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Pain crises (males) / Enzyme replacement therapy
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
End-stage renal disease (females) / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 1-4% chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
End-stage renal disease (males) / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Cerebrovascular events (females) / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Cerebrovascular events (males) / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Cardiovascular disease (females) / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Cardiovascular disease (males) / Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 06/18/2018
Clinically apparent disease / Phlebotomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Clinically apparent disease / Monitoring of ferritin levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Morbidity of acute attacks / Optimal treatment (Hemin) in the event of an attack
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Hepatocellular carcinoma / Liver US surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Neurovisceral attacks / Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 02/15/2018
Suboptimal glycemic control / Sulfonylureas/ optimal diabetic control
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 03/21/2018
Sudden cardiac death (SCN5A) / ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Sudden cardiac death (SCN5A) / Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Sudden cardiac death (KCNQ1, KCNH2) / ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Sudden cardiac death (KCNQ1, KCNH2) / Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Joint problems / Colchicine
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Amyloidosis / Colchicine
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Recurrent serositis / Colchicine
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Joint problems / Colchicine
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Amyloidosis / Colchicine
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Recurrent serositis / Colchicine
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Morbidity from other neuroendocrine tumors / Imaging surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Morbidity from other neuroendocrine tumors / Biochemical surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Morbidity from parathyroid adenoma / Biochemical surveillance
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Morbidity/mortality associated with papillary renal cell carcinoma / Periodic surveillance via renal CT imaging
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Upper GI (stomach or duodenum) cancer / Upper Endoscopy with polypectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Colorectal cancer / Colonoscopy with polypectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 05/08/2018
Breast Cancer / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Malignant peripheral nerve sheath tumors / Consultation with a provider experienced with NF1 for educational purposes
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
View Details - 01/11/2018
Vestibular schwannoma / MRI/Screening
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Stroke / Specialist care and management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Hyperammonemic encephalopathy (men) / Use of nitrogen scavengers (men)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Hyperammonemic encephalopathy (men) / Dietary modification (men)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Hyperammonemic encephalopathy (women) / Use of nitrogen scavengers (women)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Hyperammonemic encephalopathy (women) / Dietary modification (women)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 02/21/2018
Fetal teratogenicity (females only) / Pregnancy management of PHE levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Suboptimal plasma PHE levels / Optimal dietary and medical management to achieve goal PHE levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Breast cancer / Breast cancer surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Breast cancer / Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast cancer / Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 10/30/2017
Aortic valve replacement / Monitoring TAAAA
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Intracranial aneurysm / MRA surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
End stage renal disease / Blood pressure control
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
View Details - 10/23/2017
Neuropathy / Avoidance of triggers
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
View Details - 06/04/2018
Venous thromboembolism / Pharmacological prophylaxis in high-risk situations for men and non-pregnant women
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Venous thromboembolism / High risk obstetric care for pregnant women (includes pharmacological prophylaxis)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 02/08/2018
Venous thromboembolism / Pharmacological prophylaxis in high-risk situations for men and non-pregnant women
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Venous thromboembolism / High risk obstetric care for pregnant women (includes pharmacological prophylaxis)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 10/06/2017
Morbidity from basal cell carcinomas / Minimization of radiation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Morbidity from basal cell carcinomas / Sun avoidance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Morbidity from basal cell carcinomas / Skin surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Morbidity from odontogenic keratocysts / Panorex surveillance
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
View Details - 02/15/2018
Thyroid cancer / Thyroid ultrasounds
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Breast cancer / Regular screening
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Rhabdomyolysis, muscle damage, and fixed contractions / Training for an appropriate exercise regimen
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Morbidity or mortality from second extra-ocular malignant neoplasms / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Morbidity or mortality from retinoblastoma / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 07/18/2018
Morbidity or mortality from second extra-ocular malignant neoplasms / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Morbidity or mortality from retinoblastoma / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 08/15/2018
Biochemical surveillance / Pheochromocytoma
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Prophylactic thyroidectomy / Medullary thyroid carcinoma
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
View Details - 01/11/2018
Hyperparathyroidism / Biochemical screening
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Pheochromocytoma / Biochemical screening
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Medullary thyroid cancer / Thyroidectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
View Details - 01/11/2018
Sudden cardiac death / Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Sudden cardiac death / ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 01/10/2018
Paraganglioma development / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Paraganglioma development / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Paraganglioma development / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Paraganglioma development / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Emphysema / A1AT augmentation therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
Liver disease / Limit alcohol consumption
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
COPD / Smoking cessation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 05/02/2018
Liver failure / Liver transplantation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Nature of Intervention: High Risk
Hepatic encephalopathy / Dietary modification with arginine and sodium pyruvate supplementation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Low Risk
View Details - 01/11/2018
Adverse effects of sports and other risky physical activities / Avoid contact sports and other risky physical activities
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Pregnancy-associated complications / High risk pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Visual deterioration / Periodic follow-up in ophthalmology clinic
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Clinically significant aortic aneurysms / Surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Aortic Dilation Progression / Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 02/19/2018
Aortic Dilation Progression / Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Clinically Significant Aortic Aneurysm / Surveillance
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Colorectal Cancer / Cancer-Specific Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Ovarian Cancer / Cancer-Specific Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Low Risk
Ovarian Cancer / Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
Breast Cancer / Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Breast Cancer / Cancer-Specific Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
Breast Cancer / Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Greater Risk
View Details - 01/10/2018
Li Fraumeni syndrome-associated cancers / Avoidance of radiotherapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Li Fraumeni syndrome-associated cancers / Cancer surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 02/27/2018
LAM development in women / mTOR inhibitor treatment
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Morbidity and mortality from masses / Imaging to detect masses when intervention is effective
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
SEGA development / mTOR inhibitor treatment
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
View Details - 11/01/2017
Sudden cardiac death / Implantable cardiac device
Outcome
Severity: Sudden Death
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Minimally Effective
Nature of Intervention: Moderate Risk
Severe visceral, neurological, or cardiac involvement / Liver transplant
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: High Risk
View Details - 12/08/2017
Renal cell carcinoma / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Low Risk
Pheochromocytoma / Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Low Risk
View Details - 01/10/2018
Clinically significant bleeding (Type 3) / Pharmacological prophylaxis (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Type 3) / Anti-hemorrhagic interventions in trauma settings (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Type 3) / Pharmacological intervention for scheduled procedures (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Clinically significant bleeding (Types 1 and 2) / Pharmacological prophylaxis (Types 1 and 2)
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
Bleeding complications (Types 1 and 2) / Anti-hemorrhagic interventions in trauma settings (Types 1 and 2)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Types 1 and 2) / Pharmacological intervention for scheduled procedures (Types 1 and 2)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 12/06/2017
Clinically significant bleeding (Type 3) / Pharmacological prophylaxis (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Type 3) / Anti-hemorrhagic interventions in trauma settings (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Type 3) / Pharmacological intervention for scheduled procedures (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Clinically significant bleeding (Types 1 and 2) / Pharmacological prophylaxis (Types 1 and 2)
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
Bleeding complications (Types 1 and 2) / Anti-hemorrhagic interventions in trauma settings (Types 1 and 2)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Types 1 and 2) / Pharmacological intervention for scheduled procedures (Types 1 and 2)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 07/24/2018
Clinically significant bleeding (Type 3) / Pharmacological prophylaxis (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Type 3) / Anti-hemorrhagic interventions in trauma settings (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Type 3) / Pharmacological intervention for scheduled procedures (Type 3)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Clinically significant bleeding (Types 1 and 2) / Pharmacological prophylaxis (Types 1 and 2)
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
Bleeding complications (Types 1 and 2) / Anti-hemorrhagic interventions in trauma settings (Types 1 and 2)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
Bleeding complications (Types 1 and 2) / Pharmacological intervention for scheduled procedures (Types 1 and 2)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Nature of Intervention: Moderate Risk
View Details - 07/24/2018
Morbidity and mortality from WT / Surveillance via abdominal ultrasound
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Nature of Intervention: Moderate Risk
View Details - 08/15/2018