At 5 feet 10 inches and 178 pounds, with a 30-inch waist, Rashaad Forehand looks like a poster child for fitness and health.
The 31-year-old San Diegan runs four to six miles about four times a week and plays in flag-football leagues. Other days, he lifts weights and swims. He takes a multivitamin.
So why does Forehand have an elevated risk of prostate cancer, heart disease and obesity? It's all in his genes.
His fondness for waffle fries and ice cream could also play a role. But that's something he can change.
Forehand, who crunches statistics and does computer analysis for Scripps Health, is one of more than 4,000 people – mostly Scripps Health employees and their families – who have undergone genetic testing as part of a 20-year study to see what people do with their genetic information.
Is knowing that he has a higher likelihood of developing prostate cancer, the disease that killed his grandfather at 67, impetus enough for Forehand to give up ice cream? Will he be more likely to ask for prostate screening when he's 40 instead of waiting until he's 50?
The Scripps Translational Science Institute will be watching to see what Forehand and others do with their knowledge of predisposition to 20 medical conditions.
The study stems from a controversy about direct-to-consumer genetic tests that have hit the market in the past year. For a few hundred to a few thousand dollars, a customer can buy a kit that collects a saliva sample that's tested to determine an individual's genetic makeup, known as one's genome.
“There has been more learned about the genomic underpinnings of disease in the last two years than in the history of man,” said Dr. Eric Topol, director of Scripps Genomic Medicine and the principal scientist behind the study.
There's much more to learn, Topol said. For instance, there still isn't much known about how environment and lifestyle influence genetics. And there are questions about the role of certain genes that may silence other genes that are linked to diseases such as Alzheimer's.
The unknowns have led many scientists to be critical of genetic testing. A set of commentaries in The New England Journal of Medicine last month questioned the value of the tests.
Genetic testing companies probably aren't performing any useful service, said David Goldstein, a Duke University geneticist who wrote one of the commentaries.
“With only a few exceptions, what the genomics companies are doing right now is recreational genomics,” Goldstein said. “The information has little or, in many cases, no clinical relevance.”
Topol acknowledged that there are still many unanswered questions. Nonetheless, common genetic variants have been identified that put people at high risk for 40 diseases, and that's someplace to start, he said.
“When is the right time to be in touch with your own DNA? Where is there some kind of magic threshold that we have to pass to see what this is all about?” Topol asked.
The naysayers don't have the perspective of dealing directly with patients and understanding how they can be empowered by the information, Topol said.
“The key is realizing most of this information isn't a fatalistic, deterministic thing, but about probabilities,” he said. “It means that your susceptibility to something is increased.”
Rashaad Forehand's test
Forehand, the analyst at Scripps Health, said his test told him he has a lot to work on. He was one of three Scripps Health employees who spoke with The San Diego Union-Tribune about their genetic tests.
The study, conducted with Navigenics and Microsoft, gives up to 10,000 people a chance to take a genetic test below the $450 retail price.
A few weeks after mailing their genetic sample to Navigenics, they received an e-mail containing the results.
The results include a one-page summary of their genetic risk for 20 medical conditions. The risks were quantified as a percentage compared with the national average, and each risk was categorized as low, medium or high. The 80-page report chronicled the lifestyle changes and preventive measures recommended to cut risks.
“I thought it would be good to know my genetic background, because genes are the cutting edge of medicine,” Forehand said. “Plus, I have a family history of some disease. I thought it might be good to figure out what changes I could make to combat some of the diseases I might inherit.”
The three main recommendations in his report were to eat more fruit and vegetables, don't smoke – he doesn't – and limit alcohol intake.
“That one will be a challenge,” said Forehand, a bachelor, but he added that his night life has subsided since he moved from a downtown apartment to his first home in Mira Mesa. He said he also cuts down on ice cream by ordering a medium-size sundae.
“Six months from now, I think I'll be eating more fruits and vegetables, because that's the easiest change to make,” Forehand said. “And when I go to Chick-fil-A, I can order a grilled chicken breast and, instead of the waffle fries, get a fruit cup.”
Heather Bonaguidi's test
Heather Bonaguidi, 37, is a married mother of three, ages 3, 4 and 5, who works as a physician's assistant in Scripps Health's division of cardiovascular disease.
In Bonaguidi's family, there's a history of breast cancer, diabetes and cardiovascular disease. She wanted to know if she faced a greater risk of developing those diseases.
The test indicated that Bonaguidi had a slightly higher-than-average risk of cardiovascular disease and diabetes. The test reported that her risk of developing breast cancer, which her grandmother had, is low.
The report suggested that Bonaguidi increase exercise, take anti-oxidants, eat more fruits and vegetables, and cut down on sugar and fats. All of this is motivation to improve on what she thinks is a fairly healthy lifestyle.
Bonaguidi's children attend a school that doesn't allow sweets, so the family has already cut back on sugars. She has added more whole grains to the family's diet. For about six months, she has been drinking a green tea to get more anti-oxidants. She takes a fish-oil capsule a few times a week and a red-yeast-rice supplement to decrease inflammation, which is tied to diseases such as diabetes and cancer.
“I've lost a couple of pounds already by eating healthier,” Bonaguidi said. “It's not easy to do. Like taking off weight, it takes time.”
Sarah Clarke's test
Sarah Clarke, 40 and single, is a nurse practitioner who works in Scripps Health's division of interventional cardiology.
She has a family history of cancer, and wanted to know her level of risk.
“The good news is that I'm not genetically predisposed to anything that I don't have control over,” Clarke said.
Like her colleagues, Clarke didn't worry about privacy issues posed by the study. Research subjects are anonymous, and it's illegal for insurers or health care providers to use genetic information to discriminate.
Scripps Health physicians don't have a record of study participants or access to the results. The saliva samples are processed by Navigenics with technology produced by the Santa Clara company Affymetrix, and Microsoft is using the data to develop software that will ultimately allow consumers to keep their own health information.
Clarke said the test has given her new perspective as a caregiver.
The results of her test will be added to a gene repository that can be studied to analyze the genetic links to disease and wellness, she said.
In treating patients, health care providers work with a combination of disease information, family and patient history, and the treatments that have worked for providers in the past, Clarke said, adding, “This gives us another tool.”
