When Deborah Goldstock Ringel was pregnant with her first child, death was on her calendar. A "death brunch," to be specific.
That's what she termed the meal at which she gathered relatives to ask if anyone had inherited medical conditions that might put her growing family at risk. Ringel, now a mother of three, spent most of her first pregnancy believing that nothing more serious than acne plagued her DNA. But an offhand comment to her father rattled the bones in her ancestors' closet.
"I spoke to my dad after a [doctor's] appointment, and told him that I filled out a form which asked about family medical conditions, such as heart disease and high blood pressure," Ringel remembered. She mentioned to her father that her checklist was completely clean, and then got a shock: "[My father] told me that both of his grandmothers died young from high blood pressure, and his grandfather had diabetes. I realized that I simply didn't know what medical conditions were in my family."
As her due date neared, Ringel, a lawyer who lives in Cleveland Park, vowed to press her relatives hard on questions about their health. Coincidentally, Ringel's husband was elbow-deep in genealogical research at the same time, and the two combined their efforts to create a health family tree. Like a classic family tree, a health family tree shows branches connecting siblings, parents, grandparents and other kin. But it also lists inherited medical conditions and other health information pertinent to blood relatives.
Many health professionals -- including U.S. Surgeon General Richard H. Carmona -- believe these medical family histories, with their potential for preventing or mitigating disease, are critical elements in medical care. Carmona's office, in partnership with the National Human Genome Research Institute (NHGRI) and other agencies of the Department of Health and Human Services, has just launched a free Web-based software package to help families track their medical histories.
The Family History Initiative, as the project is known, debuts close to Thanksgiving because Carmona has declared the holiday to be the first annual National Family History Day.
Today medicine is "more of an assembly line, with less patient-doctor interaction," Carmona said, which means patients can no longer count on their doctors to take a lengthy family medical history and integrate the information into diagnoses. "We want to recapture that [old] relationship, tempered with reality and the new economic situation. So we created a generic historical instrument that families can fill out on their own and take to their practitioner. With that, we have a better-informed citizen, and it puts the demand on the practitioner to incorporate the patient's medical history into their care."
Health family trees are not a new idea; many doctors advise their patients to track their medical history. It's not hard to find instructions and free Web-based templates. So why this national push?
The program grew out of a casual conversation between Carmona and Francis Collins, director of NHGRI and leader of the Human Genome Project, the massive effort to decode the genome that was completed in 2003.
"We talked as two friends and colleagues concerned that it might take 15 to 20 years for the knowledge [of the genome] to get from the lab to the bedside," Carmona said. "We asked each other, 'Can we afford to deny the public this information?' The answer was no, and the idea for the project blossomed from there."
Collins was enthusiastic about involving patients in entry-level genetics.
"All medical students are taught the importance of these histories, but it's rarely practiced," Collins said. "We as health care providers have not done a good job serving our patients with this approach. The Human Genome Project results make a precise evaluation of risk possible now, and it means that health family trees are more important than ever."
Health professionals overwhelmingly agree that awareness of medical flashpoints can be lifesaving. "Knowing your family medical history can help the health professionals you see to determine if you should be offered medical screening that would not normally be conducted," said Robin Bennett, a genetics counselor and manager of the Medical Genetics Clinics at the University of Washington in Seattle who was involved in creating the Family History Initiative.
Portrait of a Family
The new software tool, "My Family Health Portrait," (available at www.hhs.gov/familyhistory), is intended to help individuals organize health information into a printout that can be taken to the family doctor and placed in the medical record. The software guides users through a series of screens to help them compile information about six common ailments (including heart disease, cancer and diabetes) as well as other conditions, all of which may have a genetic basis.
To protect patient privacy, the data entered into the program are maintained only on the user's computer, not on a government server or in a database. None of the information is accessible to any government agency. "We can be absolutely reassuring about this," Collins said.
The software seeks information about grandparents, parents, siblings, children, aunts, uncles and cousins. The printout looks like a standard family tree: circles for females, squares for males, shaded symbols to indicate disease, symbols with a line through them to indicate a deceased relative. (The version that's offered to people without online access differs slightly in appearance.) Pull-down menus provide limited information on cholesterol, heart disease and other health risks and conditions.
Along with the Family Portrait's list of diseases, geneticists recommend including facts such as:
* General patterns of ill health, like chronic ear infections, asthma or high blood pressure.
* Birth defects.
* Emotional or behavioral problems, such as depression or schizophrenia.
* Dental problems, such as periodontal disease.
* Health-related habits such as alcohol and tobacco use, exercise and diet.
* Vision and hearing problems.
The Family History Initiative emphasizes the importance of ethnicity, encouraging individuals to record the ancestry of relatives as specifically as possible because certain diseases tend to occur in particular ethnic groups. Breast cancer, for example, seems to occur more frequently in Ashkenazi (Eastern European) Jewish women than in other groups, and Tay-Sachs disease, a fatal central nervous system disorder, also seems to run in Jewish families. African Americans are more likely to have sickle cell anemia. Babies with Finnish or Scandinavian heritage are more prone to congenital nephrosis, a kidney disease, and cystic fibrosis is found most often in people of European descent.
Kathy Zeitz's experience as a breast cancer survivor has made her an enthusiastic advocate of health family trees. When Zeitz, now a health care consultant in Arizona, was diagnosed with cancer 17 years ago at age 43, she didn't know there was a history of the disease on her mother's side of the family.
"I had no idea," she said. "That side of the family didn't share their health information with me, but cancer was quite widespread."
After her treatment with radiation and chemotherapy, Zeitz created an extensive medical history that revealed the risks she and her children faced. Her family tree helped prompt discussions about possible hereditary disorders with her family. "It opened the door to the future, so my daughter and son can better plan their own families," she said.
For any medical history, it's important to zero in on major health problems family members had before reaching their sixties, said Richard Imirowicz, a child and adolescent psychiatrist practicing in Rockville. Imirowicz worries less about problems that appear in relatives in their seventies to nineties.
As a doctor treating the young, Imirowicz said, he pays special attention to mental health problems that can be inherited, such as depression, bipolar disorder, schizophrenia and attention-deficit hyperactivity disorder. "It's rare for families to bring in a medical history, but it would be welcomed," he said. "The more information we get, the better."
Georges Benjamin, executive director of the American Public Health Association, said it is significant that the Family History Initiative has emerged from the office of the nation's top doctor because "the power of the Surgeon General's office is the power of the bully pulpit." Carmona's credibility is a tool that can "move people to action" on their health, he said.
Branches on the Tree
Genealogists refer to "horizontal lines" as siblings, aunts, uncles and cousins, and "vertical lines" as parents, grandparents and great-grandparents. Most health family tree projects advise people to include both horizontal lines and vertical lines and to include four generations.
Initial efforts at planting a family tree are often incomplete, but certain steps can improve the quality. If a deceased relative was not forthcoming about his or her health, or if their conditions are unknown, Carmona recommends simple sleuthing. Death certificates and obituaries, Social Security and pension documents, insurance records, family Bibles, correspondence and military records may yield clues.
The process may involve contacting relatives one has not spoken to for a while, asking family members very personal questions and delving into non-health-related issues that some would rather let alone. When Deborah Goldstock Ringel asked older relatives about her grandmother's sister, who died in her early forties, she heard the same explanation that had circulated for decades: that she'd died of "indigestion."
Ringel, who had long been skeptical of this claim, pushed for more information. "When we said that we didn't buy the indigestion story, it came out that her husband was suspected of beating her," she said.
If relatives believe the past should remain in the past, the family tree can suffer. "My grandmother would no more tell you her personal history than what was in her bank account," Carmona said. "That's considered closely held information. It's a cultural difference. You have to be persistent."
In some cases, a particular relative with an inheritable condition "feels guilty that they may be the source of a disease in the family," said genetic counselor Robin Bennett. Bennett has also seen cases in which the stigma surrounding certain medical conditions, such as mental illness or substance abuse, compels people to hide aspects of their health history. Relatives may be embarrassed about discussing "female problems" such as cervical or ovarian cancers. If you come across this sentiment, Bennett said, it is helpful to "assure relatives that you are seeking information for your own health, and that it is no one's fault that a condition runs in the family."
Collins's work with the Family History Initiative prompted him to take a closer look at his personal medical pedigree, even after a decades-long career spent tracking genetic disorders.
"The process reminded me of a maternal aunt who died under circumstances that were never clear to me," he said. "When I go to see my parents for Thanksgiving, I plan to talk more about this so I can pass the information on to my two daughters. That way, they'll have the information for their families," with benefits possibly reaching into future generations, he said.
Alison Buckholtz last wrote for the Health section about parents who discipline their children with hot pepper sauce.