The genetic key to public health: strides in genetics research are making a difference in public health.

Of mice and men. Scientists often study mice to understand human diseases. At Harvard Medical School, for example, they have discovered genetic variations in mice that protect against anthrax. Finding similar characteristics in humans could lead to better treatment of the disease. And that's lust one example. In the futuristic world of genetics in medicine, the implications of research on public health efforts to prevent disease, promote health and, ultimately, improve patient care may seem like a far-off reality. Not so. Genetics research is already having an impact on public health.

STARTING WITH NEWBORN SCREENING 

Newborn screening is the most widely recognized use of genetic technologies by state health agencies. Well-established state programs screen newborns for a variety of genetic diseases, such as phenylketonuria (PKU) and sickle cell anemia--diseases, that, when discovered early, make a world of difference for affected children. Screenings recently reached a new milestone in Mississippi, where the state mandates screening for a record 40 disorders.

These programs, however, only begin to tap the potential of genetic testing. Down the road, state health departments may have the capability to offer even more extensive genetic services. And not just for babies. Testing for predisposition to common disorders like heart disease may one day encourage those at risk to adjust their lifestyle to prevent future illness. But the public has to believe in the value of such tests, and that's where education comes in.

GETTING EDUCATED

Washington's Genetics Education Plan reaches out to a broad spectrum, including adoption workers, clergy, lawmakers, insurers and the general public. The plan targets health care professionals and physicians, too, who may lack the necessary tools to put genetic information in an appropriate context from a medical, ethical, legal and social standpoint. Doctors who do not specialize in genetics may not be able to explain accurately the increased likelihood of illness-if any-based on a genetic test result or be aware of the potential risk of discrimination by employers or insurers.

Although the Washington State Department of Health is the mastermind behind the project, legislators like Senator Rosa Franklin are dedicated to the issue of genetics and public health. As a former nurse, Franklin has long understood the importance of the Human Genome Project's findings to the American public and has worked to get other legislators involved. But it has been an uphill battle.

"The learning curve for legislators and the public is great ... but people need to know what genetic testing means and what the options are," she says. "That's why education is so important." Today people regard genetic technologies with both wonder and fear. Understanding the capabilities and confines of technology and the laws that restrict its misuse may help to alleviate these concerns.

Back at the state health department, innovative programs, such as community "front porch" forums, will be coming to neighborhoods in Washington this year. Debra Lochner Doyle, state coordinator for genetic services at the health department, explains, "We provide the pizza. The citizens supply the porch." The goal of these gatherings is to get the public talking about genetics. Following the get-togethers, the health department plans to reach out to the greater community through a series of newspaper articles about "front porch" discussions. Ultimately, Doyle hopes that these discussions will provide a baseline of understanding about genetics within the general public and will allow for more targeted health education and health promotion efforts.

Oregon policymakers also have a stake in genetics education. During the 2001 session, the legislature passed a bill charging the Advisory Committee on Genetic Privacy and Research with educating the public about genetics, a role typically associated with public health agencies. Specifically, the legislature asked the committee to create opportunities for public education on the scientific, legal and ethical issues related to genetics. Now the committee is examining how best to do that. And it is keeping the health department and legislators informed. Senator Richard Devlin says that keeping on top of genetics policy is not an easy task. "Everything changes so rapidly that the legislature will probably have to revisit the issue every session," he says.

PROTECTING PRIVACY

The growing interest of policymakers in Washington eventually led the Legislature to request that the board of health convene a task force to examine the effects of genetic technologies on public health and privacy. The final report, released in October 2002, included recommendations that policymakers help "educate consumers, patients, researchers, health care providers, employers and insurers about how genetic information can be used," and protect "the privacy of newborn screening samples and other tissue samples held by the state."

Because privacy protections may hinder public health activities such as tracking disease outbreaks, legislators engaged in the genetic privacy debate have been compelled to weigh the importance of public health research against the need to respect the privacy of the individuals or populations studied.

"We need to be careful not to make it so difficult to access information that it stifles research," says former Arizona Senator Susan Gerard who is now the governor's policy adviser on health and human services.

The tempting possibilities that newborn screening poses for researchers are a testament to the tension between privacy and scientific progress. The blood samples taken from babies are on file in every state for a period ranging from a few weeks to indefinitely. Although they were originally compiled for genetic and metabolic screening of infants, the samples offer a unique opportunity to study other public health issues, such as how widespread diseases such as diabetes or HIV are among Americans. But ethical and legal questions arise about violations of the privacy of both mother and child.

Questions about DNA ownership further complicate public health and privacy concerns. Colorado has a new law that provides personal property rights to genetic information. "Genetic code is a bizarre property," says Colorado Representative David Schuitheis, "but it's who we are and we certainly shouldn't have to give that up."

This is just one of the issues that state health departments are facing as a result of advances in genetics. Officials anticipate that findings from the Human Genome Project will affect most, if not all, sectors of public health, such as chronic disease and other programs that people do not usually think of as having a genetic component. Some health departments are preparing for this eventuality by establishing a state genetics plan.

STATE GENETIC PLANS

The Maternal and Child Health Bureau of the U.S. Health Resources and Services Administration has funded 22 state projects to develop genetics plans to: 1) link their newborn screening system to programs that identify children with genetic conditions and special health needs; 2) connect these programs with others that provide early intervention; and 3) enable the child's medical home to access the child's health profile. Michele Lloyd-Puryear, chief of Genetic Services at the Maternal and Child Health Bureau, says that, ultimately, "We want to ensure that the system works for every individual child." States that have completed genetics plans with support from the grant include Colorado, Hawaii, Michigan, Missouri, Rhode Island and Utah.

How can legislators get a comprehensive picture of what their state is doing to address genetics and find out whether similar programs exist in other states? Tim Baker of the Centers for Disease Control and Prevention's (CDC) Office of Genomics and Disease Prevention says the creation of advisory groups or committees on genetics can enhance "the connection between legislators and their health authorities."

This undertaking may start with a narrow focus, as was the case with Oregon's Genetic Advisory Committee to the legislature, which initially focused on property rights to genetic information. Or the group may want to have a broad agenda, like California's Senate Select Committee on Genetics, Genetic Technologies and Public Policy, which has studied numerous genetics issues since its creation in 1996, including genetic testing, discrimination, gene therapy and licensing of genetic counselors.

Even long-standing groups like California's will not be short of topics for future discussion. New issues already are coming to the forefront with companies like Myriad Genetics, which is marketing genetic tests directly to consumers in several cities across the country. Currently, no public health authority bears the responsibility for informing consumers about the nature of these tests or regulating their use.

Although genetic technologies will present these and other new problems, they also may help to lower health care costs through targeted prevention and early diagnosis. In fact, the CDC is already preparing for the integration of genetics into public health practice. At the Centers for Genomics and Public Health in Michigan, North Carolina and Washington, the current and future public health workforce is learning about the human genome and how it relates to health and disease.

With scientific progress continually improving our understanding of the human genome, access to and quality and coverage of genetic services will become an increasing concern for policymakers. As these new challenges test society's ability to cope with an ever-changing world, legislators may want to reflect on how far medicine has come since just 50 years ago, when open-heart surgery and test tube babies were a futuristic dream.

Although it is not clear exactly how or when physicians will apply genetic technologies to clinical care, every day there are more clues to what the future may look like. The mice are squeaking. And state legislators are responding.

LEGISLATIVE ACTIVITY IN 2002

               Issue                 Bills or Resolutions  Enacted or
                                          Introduced        Adopted

Embryonic and Fetal Research           27 in 13 states         8
Employment                              14 in 8 states         4
Genetic Counselors                       8 in 6 states         1
Genetics Education                        2 in 1 state         0
Health Insurance                       25 in 12 states         4
Human Cloning                          55 in 25 states         7
Life, Disability and Long-term Care      9 in 7 states         2
Privacy                                16 in 12 states         5
Reproductive Genetics                   11 in 7 states         1
Task Forces/Advisory Groups             10 in 6 states         3
Testing Standards                        3 in 3 states         1
Workers' Compensation                     1 in 1 state         0

RELATED ARTICLE: THE MANY BENEFITS OF MAPPING THE HUMAN GENOME

The benefits seem almost infinite: better medicines, testing for diseases lurking in the body that would not manifest for years, plumbing the secrets of human behavior.

All that lay waiting in the sequences of essential amino acids that form the foundations of human life: DNA.

Begun in 1990, the Human Genome Project is an effort to unlock the DNA sequence of the entire human genome, the genetic blueprint for a human being, and see how the building blocks of life are linked to create everything from hair color to temperament traits to predisposition for cancer.

The National Institutes of Health (NIH), the U.S. Department of Energy (DOE), a number of U.S. universities and international partners in the United Kingdom, France, Germany, Japan and China contributed to the project.

Through the doors unlocked by the human study, current and potential applications for genome research include molecular medicine, microbial genomics, risk assessment and biotechnology. Effects could run from improved diagnosis of disease to making animal organs genetically amenable for human transplantation to creating pharmaceuticals best suited for a person's genetic makeup.

Human genome milestones have been:

October 1990-The Human Genome Project officially begins. April 1996-Human DNA sequencing begins with pilot studies at six universities in the United States.

October 1998-NIH and DOE develop a new five-year plan for the Human Genome Project designed to carry the project forward through 2003.

March 1999-Large-scale sequencing of the human genome begins. June 2000-The Human Genome Project consortium assembles 85 percent of the sequence of the human genome. February 2001-The International Human Genome Sequencing Consortium publishes the first analysis of the human genome sequence that describes how it is organized and how it evolved.

May 2002-The Mouse Genome Sequencing Consortium announces a 96 percent complete working draft of the mouse genome. The data will be an important tool for discovering human genes when comparing the genomes of mouse and human. The methods to sequence the mouse genome set a new standard for speed and accuracy.

October 2002-An international research consortium, which includes the NIH, launches an approximately $100 million public-private effort to create the next generation map of the human genome. Called the International HapMap Project, this new venture is aimed at speeding the discovery of genes related to common illnesses such as asthma, cancer, diabetes and heart disease.

Source: http://www.genome.gov

Allisa Johnson tracks public health issues at NCSL.