Genetic Disorders
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Decoding the human genome has resulted in enormous scientific progress in the understanding of health and disease, and an understanding that most diseases and conditions have a genetic component, not only in the cause of disease, but also disease susceptibility and resistance, diagnosis and progression, and responses to illness and its treatments. We all have genetic conditions; some of us know which ones, others do not. In the future, our genetic blueprint will allow for more specific understandings about individual susceptibility to particular diseases, so that prevention strategies can be targeted and individualized.

 

Genetics involves the study of heredity, focusing on single genes and their variations. A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Diseases such as Huntington disease or cystic fibrosis are single gene disorders. Genomics is the term given to both single gene and multi-factorial genetic conditions; it covers interactions among genes and between genes and the environment. Genomic conditions include heart disease, diabetes, some breast and colon cancers, etc.

 

Screening or Testing.

 

Today, individuals and families can take advantage of genetic screening or testing, which can identify the likelihood that a person might develop an inherited disease, such as Huntington, Alzheimer's, sickle cell disease, or various types of cancer. The impact on the family can be enormous, in terms of decision-making, communicating risk information, and managing the information and the potential disease over time. Though most individuals adjust to the information over time, for some, feelings of guilt, shame, anger, and isolation can be an issue. The process of learning about a genetic condition can activate family patterns of communication and challenge typical roles and beliefs. Considerations for the family include:
  • Am I, or is my primary care clinician or genetic specialists, concerned that my family has a genetic condition?
  • What professionals should be part of my decision-making? (Primary care clinician, geneticist and genetic counselor, medical/surgical specialist, family therapist, clergy, etc.)
  • What family members should be part of these decisions because they may be "at risk" genetically and/or emotionally? Spouses/partners? Extended family?
  • When and how should risk information be shared within the family?
  • How might decisions about having children be affected by the ability to access genetic information?
  • At what age should children be told they may be at risk for a genetic disease?
Different illnesses are likely to provoke different responses in different families, depending on their health beliefs and previous experiences with illness and loss. The family may experience more intense feelings of impending loss when there is a high likelihood for a disorder to develop, when it is expected to be severe, when the timing in the life cycle is predictable, and when no effective prevention or treatment is available to alter the onset or progression of the disease.

 

Genetic information that one will likely develop Huntington disease includes knowledge of the approximate timing of onset at midlife, and the probable course and cause of death. For some, acquiring such information can be very emotionally challenging. However, others find that learning a disease has a predictable course and timing helps focus priorities and life planning. It is important to note that major life changes may magnify feelings of loss and concern. Such changes include children growing up and leaving home, marital/partner commitment, planning to have children, relocation or retirement, and divorce or remarriage.

 

Others find they focus on genetic concerns as they approach the age at which another family member developed the specific condition (such as when a woman's mother developed breast cancer). Common anxieties about familial illness include: watching for "first signs" of the disorder to appear, concerns about loss of future hopes and dreams, or anticipating future caregiving for the family member at risk.

 

Getting Professional Help

 

Any marriage and family therapists who work with families with health concerns (also called medical family therapists) can help individuals, couples, and families cope with challenges to communication, problem solving, and intimacy that can come with the knowledge of increased genetic risk and the experience of symptoms and treatment of disease.

 

Raising the possibility of any genetic condition, through screening or testing, can affect the family physically, emotionally, psychologically, and inter-personally. An appropriate practitioner will be family-sensitive, family-centered, family-supportive, and collaborative. He or she can play an important role in providing both initial and periodic family consultations (that include education about the common family strains and challenges) or intensive counseling in collaboration with primary care and genetic specialists to help families considering genetic screening or testing, living with genetic risk information, and managing genetic conditions. A genetic healthcare team composed of a primary care clinician, genetic specialists, a medical family therapist, and perhaps others may assist the family by:
  • Identifying the likelihood that certain diseases or conditions may develop based on genetic information, and then anticipating the timing of the expected disorder in the person's life cycle.
  • Helping families prepare pragmatically and emotionally for expected challenges, such as: living with uncertainty, caregiving strains, and losses associated with various genetic conditions as they may unfold.
  • Helping families create meaning that sustains hope and promotes mastery.
  • Identify effective treatments, or teaching coping skills for disorders with little hope for treatment.
A medical family therapist can provide consultation as patients and families cope with new information, work through its meaning, and decide with whom and how to communicate it. Long term, the primary care clinician provides medical follow-up, while a family therapist can provide periodic psychosocial follow-up to families as they experience the challenges of genetic disorders themselves and in new generations. Family consultation or therapy needs to be available for those who desire further counseling regarding decision-making, experience serious distress, and/or have a history of mental disorder, family conflict, or substance abuse.

 

The emerging field of genetic testing and genomic medicine presents new challenges for living with uncertainty and threatened loss. Acquiring and living with genetic information and anticipating possible or likely future loss will increasingly become part of the fabric of our personal and family lives. It will expand the meaning of threatened loss to include not only our immediate, but also our extended families and future generations. And, it will increasingly impact present and future life cycle planning.

 

by Susan H. McDaniel, PhD and John S. Rolland, MD.

 

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