The Health Benefits Of Genomics

[Guest guest]

The Health Benefits Of Genomics

http://www.medicalnewstoday.com/articles/130563.php

Obsolete models of research support and regulatory guidance severely

threaten the promise of genetic medicine, writes Center Director

Kathy Hudson in the November issue of Health Affairs. She argues that

useful clinical and public health applications of genetic research

can only be achieved by replacing outdated funding and regulation

models with new approaches to funding translational research,

development of evidence-based clinical guidelines, and robust

regulation of genetic tests.

Prior to the Human Genome Project, writes Hudson, genetics research

focused on " harvest[ing] low-hanging genetic fruit " - identifying the

most obvious gene mutations whose effects were so strong they were

easily detected, and their clinical utility immediately evident.

Today, however, the game has changed. Researchers using genome-wide

association studies are working to identify the many genetic

contributors to common disorders such diabetes, cardiovascular

disease, and prostate cancer. Such variants generally have very weak

associations with disease and thus have uncertain clinical relevance.

However, they can serve to identify the sometimes surprising

molecules and pathways involved in pathogenesis. This research holds

great potential for identifying new targets for treatment and

prevention - but the fulfillment of that promise demands greater

funding for translational research.

Hudson argues that the disproportionate emphasis on discovery

research has resulted in a deluge of basic research discoveries, with

no way of moving these discoveries into useful clinical application.

She further notes that this imbalance has allowed the propagation of

costly and unproven genetic tests, which " serve only to confuse the

public to the detriment of their pocketbook - and, potentially their

health - and to undermine public confidence in genetic medicine. "

Hudson draws attention to the absence of a cost-effective means of

evaluating the usefulness of genetic tests, noting that the " gold

standard " of a randomized clinical trial may be too expensive and

cumbersome for genomic applications. On the other hand, she notes,

foregoing such a process could lead to companies or clinicians

dispensing genetic " advice " that turns out to be of questionable

value, or, worse, may undermine sound medical counsel.

Hudson presents several proposals for correcting these problems. She

identifies as a model the work of the Evaluation of Genomics

Applications in Practice and Prevention Working Group convened by the

Centers for Disease Control and Prevention, which produced evidence

reviews and evidence-based guidelines for the use of variants in

cytochrome P450 (CYP450) to guide treatment, drug choice, and dosage

for certain antidepressants. However, she explains that such reviews

need to be " accompanied by regulatory approaches that employ a risk-

based paradigm that doesn't sweat the small stuff, but still keeps

unsafe tests out of the marketplace and closely polices the claims

made by testing companies about their wares. "

Hudson also recommends the Food and Drug Administration implement a

tiered review process for all laboratory-developed tests, with a

special focus on " high-risk " tests that address serious disease, and

yield information patients can use to guide medical decisions. She

also advises adoption of a recommendation passed down by the

Secretary's Advisory Committee on Genetics, Health, and Society to

develop a mandatory genetic testing registry, cataloging data on

genetic tests' analytical and clinical validity, which would then be

available for health care providers and the public to inform their

decisions about whether a test is appropriate. Finally, she implores

the Federal Trade Commission to take action to stop false and

misleading claims made by purveyors of genetic tests directly to

consumers.

These recommendations can be implemented only under an umbrella of

broader change, according to Hudson. " All of these suggestions, " she

writes, " presuppose a funding environment where disproportionate

emphasis on discovery research is balanced by funding for

translational research to establish the validity and utility of new

genetic tests, development and dissemination of health professional

guidelines, and effective regulation of genetic tests. " - Sara Brinda

Hudson, Kathy. The health benefits of genomics: Out with the old, in

with the new. Health Affairs 27: 1612-1615.

Center report - Public Health at Risk: Failures in Oversight of

Genetic Testing Laboratories

Javitt, Gail. In Search of a Coherent Framework: Options for FDA

Oversight of Genetic Tests. Food and Drug Law Journal 62: 617-652.

The Genetics and Public Policy Center - s Hopkins University

http://www.dnapolicy.org