If Gilda Radner, one of the original cast of Saturday Night Live, had known of her family's medical pedigree and her ethnic heritage, she possibly could have prevented her death from ovarian cancer, the silent killer that tragically took her life at the age of 42. Cancer, mental illness, diabetes, and heart disease all have a hereditary component.Unlocking Your Genetic History explains how to integrate a family health history into your genealogy, how to get the appropriate medical information and analyze it, and how to design a medical pedigree in order to detect the genetic influence on your family's health. Early awareness, identification, and treatment can mean the difference between life and death.

The second part of the book discusses the exciting new field of using genetic testing to link you to your ancestors and verify your genealogy. Genetic testing was used to show that Thomas Jefferson fathered children with his slave Sally Hemings and has direct male descendents living today. It has shown that Jews retained their genetic identity despite the Jewish Diasporsa. DNA testing can help identify Native American ancestry, determine who settled Polynesia, and track the march of Genghis Khan as he swept out of Mongolia. Today DNA testing is being used in court and to identify human remains.

Unlocking Your Genetic History will help readers understand their family's medical and genetic history and help them understand the genetic revolution.

Unlocking Your Genetic History

Rutledge Hill Press

Contents

Acknowledgments........................................................................xiIntroduction: Who Should Read This Book?...............................................11. Ignorance Is Not Bliss: Know Your Family's Health History...........................52. Dominant and Recessive Diseases: Our Genetic Inheritance............................133. When Genes Go Bad...................................................................414. Compiling Your Family's Health History..............................................615. Do You Speak Medicalese?............................................................716. Draw Your Pedigree..................................................................977. What Have I Found?..................................................................1098. Common and Important Genetic Diseases...............................................1239. Tracking Your Genes: Molecular Genealogy............................................17110. Y Chromosome Testing: Your Father's Father's Father ...............................18711. Mitochondrial DNA: Tracking Mom's Line.............................................21512. More Information on the Internet...................................................23313. Ethics, Privacy, and the Future of Genetics and Genealogy..........................249Epilogue...............................................................................263Appendix A: Forms for Compiling Your Family's Health History...........................267Appendix B: National Genealogical Society Standards and Guidelines.....................275Glossary...............................................................................281Bibliography...........................................................................289Index..................................................................................295

Chapter One

Gilda Radner was ill. One of the original members of the television show Saturday Night Live, comic genius Radner did not realize that her body contained a ruthless ticking genetic time bomb-and it had just exploded. Somewhere deep in her pelvis, a single gene, a mistake, one that she had unknowingly inherited, was set in motion. A single isolated cell containing this mutated gene began unconstrained relentless growth, multiplying needlessly and destructively. A cancer was forming; a mass of cells unresponsive to the body's normal control had been created. Suffering from abdominal swelling, bloating, fatigue, and vague stomach pains that were initially thought by various doctors to be due to the flu or exhaustion, Radner was finally diagnosed with advanced ovarian cancer. Born in Detroit in 1946, she was then only 40 years old. Radner endured over two years of surgery, chemotherapy, and radiation therapy, only to die in 1989 at the age of 42. She could not know that her family history of ovarian cancer put her at a brutally high risk of developing the disease. Had the genetic and familial link of ovarian cancer been more widely known, had the significance of her family's medical pedigree been understood, and had the relevance of her ethnic heritage been recognized, she would have known that having an aunt, a grandmother, and a cousin who died from ovarian cancer and a mother who had breast cancer was extraordinarily significant to her own health.

Ovarian cancer is a silent cancer; growing slowly but relentlessly, it shows few symptoms until the disease is advanced. Early detection, however, can be curative. 5 While many ovarian cancers appear to arise spontaneously without a positive family history, some are hereditary. In general, a family history of ovarian cancer, especially if two or more close relatives are affected, is an important risk factor. We now know that at least two mutated genes, BRCA1 and BRCA2, predispose a woman to breast and ovarian cancer. These were discovered in 1994 to 1995, less than a decade after Radner's death. If a woman carries a diseased copy of BRCA1, she has a 65 percent chance of developing breast cancer by the age of 70 and a 39 percent chance of developing ovarian cancer. For BRCA2, the risks are 45 and 11 percent, respectively. About one in 50 Ashkenazi Jews, who trace their origin to central and eastern Europe, are known to carry abnormal BRCA1 or BRCA2 genes and are at increased risk for ovarian and breast cancer. Although Radner died before the BRCA gene mutations were discovered, given her family history, her early age when she was diagnosed, and her Jewish and Lithuanian heritage, she probably carried one of these genes.

Family Health History

Few of us know our family's health history or have taken the time to compile and analyze it. For instance, not until age 60 did U.S. Secretary of State Madeline Albright, who was raised a Roman Catholic, learn that she came from a family of Czechoslovakian Jews. For some of us, our grandparents were born elsewhere, such as in Europe or Asia. How much do we know about their brothers and sisters living outside of the United States? Are you in contact with all of your cousins? Do you know the state of their health? We live in a highly mobile society, with relatives often scattered around the country. Do you know how they are doing? In Gilda Radner's case, while she knew her family's health history, she could not understand its significance to her own health. Back in the early 1980s, far less was known about the relevance of genetics to family cancers. The past two decades have seen a virtual explosion in genetic knowledge, information that may be significant to you and your family.

As you compile your family's health history, you may be surprised that what seems to be an isolated disease actually affects several members of your family and therefore might put you and other members of your family at increased risk. For instance, if you find several family members with heart attacks, especially if they occur at a young age, you should realize that you might also be at risk. As genealogists have long known, it is important to research the whole family. Just as tracking the migration of a great-great-uncle might show you the location of your great-great-grandfather, so too might finding out the health history of a second cousin apply to your own health. Even if you are health conscious, eating a healthy diet and exercising regularly, you may still fall victim to your genes.

One Friday in 2002, Darryl Kile, one of the most respected pitchers for the St. Louis Cardinals, went to dinner with his brother the night before a baseball game against the Chicago Cubs in Wrigley Field. At approximately ten o'clock, he returned to the Cardinals' team hotel on Michigan Avenue. The following morning, two hours before the game was to start, the team realized that Kile was not present and called the hotel. Hotel workers had to force open the door, locked from the inside, to find the 33-year-old baseball pitcher dead in his bed. The 6 foot 5 inch athlete had appeared to be in perfect health. Kile had passed the team's spring training physical examination, including routine ECG and blood tests. The team doctor said he had no known health problems and was not on medication. Kile's autopsy revealed an 80 to 90 percent blockage of two...