52 Genetic Conditions to Monitor If They Occur in Your Family

Many serious and life-threatening diseases and other medical conditions have genetic components. This means the propensity for the condition can be passed down within a family’s bloodline. Fortunately, genetic testing of a person’s tissue or blood can identify specific gene disorders. Some genetic tests are standard for pregnant women and their fetuses while others are only used when a person develops symptoms or specifically requests the test. You should attempt to conduct a family medical inventory to determine which genetic conditions, if any, you may be at risk of developing or carrying and passing on to your offspring. This will help you to know whether or not to seek a genetic test for a particular condition. When a genetic condition occurs in your family, it is crucial to monitor your own health for that condition so it is detected as early as possible. This allows for treatment and management to begin sooner and provides an increased likelihood of effectively relieving or ameliorating the condition. Monitoring is particularly invaluable when a genetic condition is debilitating or fatal. Monitoring your health for genetic conditions benefits not only you but also your family as well. For example, it can be extremely useful to get yourself regularly tested as a potential carrier of any genetic disease in your family medical history so that even if you never develop the condition, you are also certain not to unknowingly pass the condition on to your children.

Types of Genetic Conditions to Monitor

All genetic conditions fall into one of three categories: single gene disorders, chromosomal disorders and complex disorders. Single gene disorders, such as sickle cell anemia, involve the mutation of an individual gene. Chromosomal disorders, like Down syndrome, involve altered or absent chromosomes or elements of individual chromosomes. Complex disorders, such as colon cancer, involve mutations in multiple genes. Furthermore, certain genetic conditions like Huntington’s disease, hereditary ovarian cancer and breast cancer, are autosomal, meaning that only a single parent needs to possess the necessary chromosome to transmit the mutation to his or her children. This gives offspring of a parent with such a condition a 50 percent chance of acquiring that condition. As you compile and review your family medical history, be sure to account for all three types of genetic conditions that may occur in your family and need to be monitored.

Genetic Conditions to Monitor

The following 52 genetic conditions should be monitored if they occur in your family. This list is a fraction of the known genetic conditions a person could acquire. The Office of Rare Diseases Research (ORDR) maintains a full list of conditions, viewable to the public through the Genetic and Rare Disease Information Center (GARD). The partial list below was sourced by the National Institutes of Health.

  1. Achondroplasia
  2. Alpha-1 Antitrypsin Deficiency
  3. Antiphospholipid Syndrome
  4. Autism
  5. Autosomal Dominant Polycystic Kidney Disease
  6. Breast Cancer
  7. Charcot-Marie-Tooth
  8. Colon cancer
  9. Cri du chat
  10. Crohn’s Disease
  11. Cryopyrin-Associated Autoinflammatory Syndromes (CAPS)
  12. Cystic fibrosis
  13. Dercum Disease
  14. Down Syndrome
  15. Duane Syndrome
  16. Duchenne Muscular Dystrophy
  17. Factor V Leiden Thrombophilia
  18. Familial Hypercholesterolemia
  19. Familial Mediterranean Fever
  20. Fragile X Syndrome
  21. Gaucher Disease
  22. Hemochromatosis
  23. Hemophilia
  24. Holoprosencephaly
  25. Huntington’s disease
  26. Klinefelter syndrome
  27. Marfan syndrome
  28. Myotonic Dystrophy
  29. Neurofibromatosis
  30. Noonan Syndrome
  31. Osteogenesis Imperfecta
  32. Ovarian Cancer
  33. Parkinson’s Disease
  34. Phenylketonuria
  35. Poland Anomaly
  36. Porphyria
  37. Progeria
  38. Prostate Cancer
  39. Retinitis Pigmentosa
  40. Severe Combined Immunodeficiency (SCID)
  41. Sickle Cell Anemia2
  42. Skin Cancer
  43. Spinal Muscular Atrophy
  44. Tay-Sachs Disease
  45. Thalassemia
  46. Trimethylaminuria
  47. Turner Syndrome
  48. Velocardiofacial Syndrome
  49. WAGR Syndrome
  50. Wilson Disease
  51. Phenylketonuria (PKU)
  52. Congenital Hypothyroidism

Genetic Conditions to Monitor in Your Children

If certain genetic conditions run in your family, it is wise to monitor the possibility of the conditions developing in your newborn children. Two of the genetic conditions most commonly tested for in newborns are sickle cell anemia and cystic fibrosis (CF).

Types of Genetic Monitoring

Genetic screening or testing can be extremely broad. In addition to the types of genetic screenings already mentioned in this article are additional prenatal diagnoses, including neural tube defects, newborn screenings, such as for PKU, carrier testing or heterozygote testing, such as for Tay-Sachs disease. Genetic screening includes sign or symptom identification screening, such as for myotonic dystrophy. There are also predictive screenings for late onset monogenic disorders, such as Huntington’s disease, and susceptibility screenings for late onset conditions involving complex environmental and genetic interactions, such as coronary heart disease.

Reasons to Monitor Genetic Conditions and the Dangers of Undiagnosed Genetic Conditions

Genetic screenings and monitoring can identify diseases before they occur. The identified diseases may strike at a younger age than anticipated, do not usually affect a person of your gender or may be the result of a combination of genetic influences from the family histories of both your parents. Ignoring the potential for you to develop a medical condition that runs in your family puts not only you at risk but also your progeny. The National Human Genome Research Institute (NHGRI), one of the National Institutes of Health, warns that undiagnosed genetic conditions, or the symptoms or characteristics which a physician is unable to associate with a particular medical condition, can be frustrating for both you and your family. This makes an appropriate treatment plan difficult to put into effect. For this reason, it can benefit you greatly to know what genetic tendencies run in your family in order to help guide your physician to the most likely genetic tests to properly detect or diagnose your condition.