In our day to day lives, we tend to forget about our genetic inheritance. However, the discoveries in genetics and genomics by research scientists from around the globe are changing our views about what we inherit and pass on in our genes. Medicine, through genetics, is moving into the 21st century, where knowing your genetic inheritance may allow you to prevent disorders such as birth defects, diabetes, or cancer.

Scientists have already shown that there are medicines and other interventions that may help prevent or delay onset of many diseases in those who are at a higher genetic risk for the disease. Listed below are some everyday examples of people who were curious about their personal genetic makeup and obtained genetic health care. GeneScene offers services that may benefit you if you find yourself thinking like these patients and asking similar questions.

The examples (Breast Cancer, Colon Cancer, Birth Defects, Miscarriage, Diabetes Mellitus, Alzheimer's Disease) which follow are true stories of real patients. We have changed the patients' names to protect their privacy. For basic information about genetic screening, counseling, and consultation in medical genetics, please review our FAQs about Medical Genetics.

Brief Examples

Breast Cancer

Deborah, a 35 year old woman, finds out that her 41 year old sister was just diagnosed with breast cancer. Her mother died of breast cancer at age 46 years. She wonders what are her own risks of developing breast cancer. Full story.

Colon Cancer

Joseph is a 50 year old man who has just undergone his first colonoscopy. He had been adopted as a baby, and knows no family history. He is concerned that he may have passed on a gene causing colon cancer to his children. Full story.

Birth Defects

Maria, a 35 year old pregnant for the first time, wants to know what her chances are of having a baby with birth defects. She grew up with a younger brother who had developmental delay and many congenital problems, which has her worried about the health of her own baby-to-be. Full story.

Miscarriage

Sonia is only 30 years old, but has had four miscarriages. Her physician has suggested genetic testing. The doctor doesn't have the time to explain about the tests, and referred her for genetic counseling to answer her questions. Full story.

Diabetes Mellitus

Daniel is a 22 year old college student who just found out that his older siblings have type 2 diabetes mellitus. He wonders about his chances of developing diabetes like is brother and sister, and then passing it on to his children. Full story.

Alzheimer's Disease

Jessica, caring for her 78 year old mother, has just heard that her uncle also has Alzheimer's Disease. She is concerned that she too will develop Alzheimer's and wants to be able to plan for her future so she won't be a burden on her children. Full story.

Full Stories

Breast Cancer

Deborah is a 35 year old woman with two small children. She gets a call at work one morning from her older sister, Laura. Her sister just got the news that her breast biopsy was positive for breast cancer. The sisters are tearful as they remember their mother who died of breast cancer when she was only 46 years old. Deborah would like to know if her own risk for developing breast cancer is increased. Should she consider a prophylactic mastectomy, or the removal of both breasts now before cancer strikes? Should she have mammograms every year now? Should she take one of the new medications to try to prevent breast cancer? And what about her ovaries? She is concerned about herself, and especially the impact breast cancer would have on her children. The GeneScene Screen for Breast Cancer can help her understand her genetic risks and who in her family should consider testing for mutations in the genes associated with familial breast cancer. She will be able to learn what she can do either to prevent breast cancer or to detect it in its earliest stages when it is the most curable. Then she will be better informed to make any difficult decisions about her own health care and life style. Top of page.

Colon Cancer

Joseph, age 50 years, has just been told he has multiple polyps, or growths, in his colon. His doctor tells him that he does not have colon cancer, but he has a precancerous condition. He is not sure if anyone else in his family has had colon cancer, but he is concerned that he may have passed on a gene increasing the risk for colon cancer to his children. The GeneScene Screen for Colon Cancer will assist him in assessing his risks and determine whether genetic counseling is appropriate for him. If so, genetic counseling can then help him decide if further genetic testing is right for him and others in his family. Top of page.

Birth Defects

Maria, a 35 year old pregnant woman is concerned about her risk for having a child with a birth defect or genetic disorder. She is nervous because her youngest brother has Trisomy 21, or Down syndrome. She remembers his heart surgery and his developmental problems. She can learn if this risk has been increased because of her age and her medical and family history by completing the GeneScene Screen for Birth Defects. If she then decides to proceed with genetic counseling, she will gain an understanding of the available examinations and tests that help diagnose a potential problem and the ways to help prevent birth defects. Top of page.

Miscarriage

Sonia has just miscarried for the fourth time. She and her husband are 30 years old and have never had any children. She is devastated and is wondering why it happens repeatedly. Her doctor suggests genetic testing, and before she proceeds, she wants to know why and what the test results would mean for her chances of having a healthy baby. She completes the GeneScene Screen for Birth Defects, and finds genetic counseling is recommended, as her own physician suggested. In the genetic counseling session she learns about genetic reasons for miscarriage, tests to determine if there is an underlying genetic problem, and possible treatment options including the use of eggs or sperm donated by another person. Top of page.

Diabetes Mellitus

Daniel, a 22 year old college student, just found out that his 25 year old brother and 27 year old sister both have been diagnosed with type 2 diabetes mellitus. His mother struggled with the disease herself, and so did her father. He is healthy and always does plenty of exercise, but he now has many questions about his chances of developing diabetes. He wonders if it is inevitable that he becomes a diabetic. He is also concerned that he may be passing on some genetic abnormality when he has children. The GeneScene Screen for Diabetes will return an immediate answer about whether genetic counseling will help him arrive at the best decisions about his risks, what tests may help, and how to stay healthy. Top of page.

Alzheimer's Disease

Jessica is the primary caregiver for her mother, Helena, who has had Alzheimer's Disease for the past five years. After Jessica's father died at age 75 years, she took over care for her mother when Helena could no longer be safe living alone. Jessica just got off the phone with her cousin who said Helena's brother was just diagnosed with Alzheimer's Disease, too. Jessica is frightened that she will be the next in the family to develop Alzheimer's Disease. The GeneScene Screen for Alzheimer's Disease will help her decide if genetic counseling would help her and her family. She wants to know if there is any test she can take so that she can be better prepared than her mother was if this happens to her. Top of page.