Read Suggested Topics for Research | AHRQ Effective Health Care Program

Topic Suggestion Description

Briefly describe a specific question, or set of related questions, about a health care test or treatment that this program should consider.: For patients with various suspected genetic syndromes does the testing improve outcomes for the affected with prospective studies looking at those with suspected diagnosis versus those having confirmation with a genetic test. Cost effectiveness needs to be reviewed as well if there are alternatives for monitoring or determining when a condition will occur and be treated.

Does your question include a comparison of different health care approaches? (If no, your topic will still be considered.)

If yes, explain the specific technologies, devices, drugs, or interventions you would like to see compared:: Compare known syndromes associated with a gene link for health outcomes with or without gene testing for those suspected of the syndrome. The blood test would be done on all enrolled in study but outcomes of study blinded to the control population and treatment. The study will look at additional tests done for monitoring for suspected associated morbidity and treatment for both groups. Use a variety of well known links like CHARGE, velocardiofacial syndrome, etc.

What patients or group(s) of patients does your question apply to? (Please include specific details such as age range, gender, coexisting diagnoses, and indications for therapy.): patients with suspected genetic syndromes.

Are there subgroups of patients that your question might apply to? (For example, an ethnic group, stage or severity of a disease.): All ethnic groups, look at children less than age 21 with signs or symptoms of a genetic syndrome.

Describe the health-related benefits you are interested in. (For example, improvements in patient symptoms or problems from treatment or diagnosis.): Look at cost to benefit ratio of the knowledge of the positive genetic test in # of preventative monitoring tests, look also at any suspected delays in care of a condition , effects of the knowledge of the syndrome on obtaining health care insurance or services, costs of tests for the genetic syndrome, effect on qualy years.

Describe any health-related risks, side effects, or harms that you are concerned about.: The risks for doing the test include counseling of what a positive genetic test means not only for individual but for other family members, in terms of prevention , stigma, support , false positive and negative test result implications, costs, reproductive counseling, potential barrier to care or improvement in barrier. Alternatives to gene testing may be more cost effective , but need to look at effect on quality of life and outcome.

Does your question include a health care drug, intervention, device, or technology available (or likely to be available) in the U.S.?: yes

Which priority area(s) and population(s) does this topic apply to? (check all that apply)

EHC Priority Conditions (updated in 2008)

AHRQ Priority Populations

Children
Individuals with special health care needs, including individuals with disabilities or who need chronic care or end-of-life health care

Federal Health Care Program

Describe why this topic is important.: Genetics is an expanding field with costs for the tests not controlled , and many Medicaid programs not reimbursing as the laboratories providing the test will not take insurance or comply with a State's requirement to get id. The question is for which syndromes is their an improvement in timeliness and outcome of associated conditions for a particular syndrome with the knowledge of the test and how it relates to the overall cost of the test. Could the care have been provded without the knowledge of the genetic test. As more and more syndromes are defined , and the cost of testing becomes a large burden to the Medicaid system, there should be guidelines to when the test is mandatory or care for the child is actually harmed, ie when alternative specialty monitoring for signs and symptoms of an associated condition could not be picked up timely without the genetic testing.

What specifically motivated you to ask this question? (For example, you are developing a clinical guideline, working with a policy with large uncertainty about the appropriate approach, costly intervention, new research you have read, items in the media you may have seen, a clinical practice dilemma you know of, etc.): I am a Medical Director for a Medicaid Plan and find the literature abounding in information on genetic tests but not on the outcomes after knowledge of a positive test and there is frequently reimbursement issues for the State given the labs providing the tests lack of cooperation to meeting State requirements. We need to begin looking at evidence based outcomes for the more common diagnosis.

Does your question represent uncertainty for clinicians and/or policy-makers? (For example, variations in clinical care, controversy in what constitutes appropriate clinical care, or a policy decision.): yes
If yes, please explain:: Explained above. There may be a consortium guideline, saying test (example Cleft Palate Organization states all children with cleft palate should be tested for velocardiofacial syndrome) but the State may not want to cover for just reproductive counseling if there is no guarantee or evidence to show counseling changes the desire for pregnancy, nor in the actual outcome of the disease.

How will an answer to your research question be used or help inform decisions for you or your group?: It will allow the geneticists and specialists to determine when the testing will improve health outcomes with a reasonable cost to benefit ratio , thus allowing them to know when genetic testing should occur. Costs saved in the rapidly expanding area of genetics can then be distributed to other areas more likely to improve health care .

Describe the timeframe in which an answer to your question is needed.: Anticipate it will take at least 5 years to begin to have answers to these questions.

Describe any health disparities, inequities, or impact on vulnerable populations your question applies to.: It may actually improve the expectation of care and treatment of both suspected and test confirmed genetic syndromes . Without guidelines heathcare decision makers very much are trying to apply their own models to the determination to allow testing.

Other Information About You: (optional)

Please choose a description that best describes your role or perspective: (you may select more than one category if appropriate)

Are you making a suggestion as an individual or on behalf of an organization?

Individual

Please tell us how you heard about the Effective Health Care program

Research on genetics led to the information on internet