The Center for Medical Genetics has experience with a broad array of inherited diseases and conditions that go beyond cancer, cardiovascular disease and neurological disorders.
Our Medical Geneticists and Genetic Counselors provide services and contribute to clinical trials across diverse specialty areas including, but not limited to:
Offering individualized care, we aim to fulfill specific requests for testing of the most to the least common inherited conditions. Our team uses genetic testing, when appropriate, to identify possible familial reasons for a variety of health problems and/or provide a definitive diagnosis for inherited diseases.
Advances in personalized medicine continue to increase our knowledge about the role our DNA plays in our health. With each new discovery about inherited genetic links to disease, we update and expand our genetic testing and counseling capabilities at NorthShore. We not only follow up with our patients but also encourage other individuals to keep in touch with our medical genetics team for the latest testing options.
Kidney Disorders and Conditions
While most renal disorders are not hereditary, some kidney conditions have known inherited genetic components. Common hereditary kidney disorders include:
- Autosomal Dominant Polycystic Kidney Disease, a generally late-onset condition that leads to progressive cyst development.
- Tuberous Sclerosis, a renal disorder that affects many of the body’s systems from the eyes to the central nervous system.
- Alport Syndrome, a condition involving inflammation of the kidneys leading to chronic renal failure (hereditary nephritis), deafness and eye abnormalities.
- Von-Hippel Lindau Syndrome, a hereditary cancer syndrome that can lead to tumors in a number of organs including the kidneys, cerebellum, spine, eye, inner ear, adrenal glands and pancreas.
If one of these kidney disorders runs in your family, your chances of developing this type of inherited disease increases.
At NorthShore, we provide genetic testing for some hereditary kidney conditions. DNA test results, along with a detailed family medical history, helps to determine the likelihood of a hereditary kidney syndrome. It is generally most informative if a relative who has had kidney disease is tested first, to determine if an identifiable gene mutation exists in the family. Further testing of at-risk family members can help determine which individuals have a significantly higher risk of developing an inherited kidney disease or have a general population risk.
Diabetes
Inheriting diabetes is not clear cut. People with a family history typically inherit a predisposition to the endocrine disorder. Environmental factors, from diet and obesity to viral infection, are believed to be among the triggers that set off the development of the disease. Although Type I and Type II are the most commonly known forms, many types of diabetes exist—and all have some sort of genetic component that drives the condition.
Our medical genetics team is working with NorthShore clinical researchers to test individuals with Maturity-Onset Diabetes of the Young (MODY). A rare form of the condition, MODY is frequently misdiagnosed as either Type I or Type II diabetes. Type I typically involves a lifetime of insulin injections; Type II can usually be controlled with oral medications and diet. Unlike these forms of the disease, however, MODY can often be managed with oral medications rather than insulin injections. Sometimes, no treatment at all is needed.
A recently launched clinical trial at NorthShore, FIND MODY, will involve free genetic testing for patients identified as potentially having MODY based on clinical criteria found in our electronic medical record system.
For more information about participating in this study, please call 847.663.8510 or email diabetesresearch@northshore.org.
Pediatric Conditions
Abnormal physical characteristics. Intellectual delay. Problems with motor function. Seizures. While a history of these features can be part of a genetic syndrome, these conditions can be challenging to accurately diagnose and determine a root cause. Medical genetics can help determine if your child’s condition is due to an underlying genetic cause and whether there is a hereditary component. For example, Down Syndrome is a genetic disorder but typically does not pass from parent to child or through a family. In either case, DNA testing may provide a better roadmap to care via earlier intervention and treatment or screening and prevention.
Our team often works with individuals whose child, or children, have received an unusual or unexpected medical diagnosis. Testing of the parent(s) as well as the child, or children, gives insight into how their unique genetic makeup might have led to the condition by using the latest genomic technology. This information can be useful for families planning another child and hoping to avoid passing down the risk of an inherited disease.
The Center for Medical Genetics has an extensive referral network, including NorthShore’s prenatal genetics service and can connect families to the appropriate resources and support for their particular situation.
Mental Health
Depression, bipolar disorder and anxiety can be successfully treated through medication. Yet the benefits of drug therapy for psychiatric disorders can be highly dependent on a patient’s unique genetic makeup. Affecting brain function, psychoactive drugs are particularly sensitive to genetic wiring. Genetic testing and counseling provided by medical genetics and pharmacogenomics specialists can help fine-tune drug selection and dosage.
Through our Pharmacogenomics Clinic, we offer preemptive genetic testing to better predict an individual’s DNA-coded response to many standard psychiatric medications from paroxetine (Paxil®) to fluoxetine (Prozac®). At the Center for Medical Genetics, patients first meet with a Genetic Counselor and a Medical Geneticist to review current medications and health histories. If appropriate, a small blood sample is drawn for testing. Test results and recommendations are discussed at a second appointment, where patients meet with a Medical Geneticist and a pharmacist specially trained in pharmacogenomics.
While certain mental illnesses such as depression may run in families, much is still unknown about how genetics interact with environmental influences in the development of disorders. NorthShore is leading the way with innovative genomic-based mental health research studies in our Center for Psychiatric Genetics. Focusing on schizophrenia, our pioneering investigators have identified the major gene that leads to schizophrenia. Our Research Institute currently conducts some of the largest and most comprehensive genetic studies in the field of psychiatry.