Hint: Look for a clear indication in the information of
Note: It may be necessary to search for the aims especially in web based information
If the answer to question 1 is 'No', go directly to question 3
A good quality publication will provide a clear description of the condition.
This description should cover possible causes (including details of the genetic basis of the condition), inheritance patterns, symptoms, course, and prognosis. This information is important for deciding about testing, as it helps you understand the condition and what being identified "at risk for" or having the condition might mean for you.
Rate the question according to the information it provides on the background and effects of the condition. This information does not need to be very detailed, but should provide you with a clear overview of the nature of the condition.
Guidelines for rating the question:
We have devised simple examples here to demonstrate the quality criterion underlying Question 3. However, the information rated by this question should also have clear sources and referencing where appropriate as outlined in Question 16. For further guidance and examples, please refer to the guidance for Question 16
A national cancer charity booklet provides information about genetic testing for an inherited form of cancer. The opening sections include a description of the symptoms and progress of the condition, an explanation and diagram of the genetic fault underlying the condition, details of who it affects (prevalence, age range and sex ratios), how it is inherited and how genetic variations of the disease produce different symptom profiles, and areas of scientific uncertainty regarding risks and outcomes for the condition.
A hospital website provides information about screening for Tay Sachs disease. The condition is described as follows:
Tay Sachs Disease is a fatal, inherited neurodegenerative disorder. It usually begins in infancy. There is no treatment or cure, and affected infants usually die before age 5 (cases of later onset usually die by the age of 15). Tay Sachs occurs most frequently in descendants of Jewish families from Central and Eastern Europe (Ashkenazi Jewish ancestry).
It describes the prevalence of the condition in Jewish and non-Jewish groups.
It is a recessive disorder, which means that both parents have to be carriers to pass on the faulty gene.
Additional rating notes: The description of the disease provides minimal information on symptoms and features of the condition. Clear details of transmission patterns and risks are not provided. Other omissions include an indication of whether any affected children survive into adulthood, or whether being a carrier has any physical or emotional effects.
A charity website provides details of Turner Syndrome, including symptoms, features and testing. The section on Causes consists of the following:
Turner syndrome is caused by a missing or abnormal chromosome normally found in women.
Additional rating notes: This description of causes is incomplete as it is not clear whether the genetic mutation is inherited or sporadic and there is no link between the chromosome abnormality and symptoms and features of the condition.
A file downloaded from a University website describes genetic testing for an inherited condition. The publication gives a detailed description of the genetic markers for the disease and methods of testing. However, there is no discussion of the condition, its symptoms, prevalence, inheritance patterns or related risk factors.