Genetic testing to protect future generations

The inception of this column was a conversation I had with a good friend who’s a carrier of a genetic mutation responsible for a number of cancers that have afflicted him. I present three genetic hereditary conditions here that form signposts that reflect my relationships and concerns, hoping too, to spark others’ curiosity, to learn more about genomics and genetics.

My friend had surgery for colon cancer as a teenager that was, in rapid succession, followed by thyroid cancer and a radical neck dissection. Recently after removal of a cancerous colon polyp, genetic testing revealed he’s a carrier of a genetic mutation characteristic of the Lynch syndrome. Since he couldn’t tell if he might develop another colon cancer in the future he opted to undergo total colectomy and ileostomy. In our conversation he remarked, “Thank my parents for that,” referring to the Lynch syndrome. I doubt his parents knew they were carriers of a genetic mutation that could lead to development of colon, thyroid, stomach, uterine cancers.

The other two hereditary conditions are: Sickle cell trait (SCT) and sickle cell disease (SCD), and albinism. They’re, respectively, associated with hereditary genetic anomalies affecting abnormal red blood cells, and impaired melanin production.

About 73.1 per 1,000 American Black newborns have Sickle Cell Trait. SCD results from inheritance of genes from two people both of whom have the trait. People with SCD can only make C (sickle) shaped red cells, a shape that impedes red cells’ passage through smaller blood vessels. The resulting clamps of red cells cause severe pain, infections, organ damage and other severe conditions, such as the “acute chest syndrome,” and death.

Recently I attended CU Anschutz’s Sickle Cell Summit and learned of new therapeutic modalities — pharmacologic as well as the exciting CRISPR/Cas9 gene editing therapy. Unfortunately, many people who have SCT are unaware of their status or the implications of SCD their offspring might inherit. Such knowledge can be useful in determining future fami

Many of us are carriers of a variety of inherited genetic conditions that we should attempt to know about and, if necessary, seek genetic testing and genetic counseling. Clearly in families where several members have had colon cancer, testing for genetic mutations should be performed.

ly planning. On a positive note, the Anschutz Sickle Cell Group under Dr. Kathryn Hassell as well as Colorado Sickle Cell Association are actively disseminating information on SCT.

My concern for people living with Albinism began the day I was about to board a plane to Europe when I saw three men carrying a small somnolent child with albinism at Nairobi airport. They’d been to Tanzania and were bound for Burkina Faso. The idea that the boy was going to be sacrificed for his limbs and organs did not cross my mind then though I soon recalled reading a piece about how people living with albinism in Tanzania are rejected and viewed with hate and suspicion.

Their body parts are procured and used in witchcraft to confer power and good luck on wealthy politicians. This results in people with albinism having their limbs hacked off regularly.

Back in the U.S., I made inquiries and entreaties to airlines, Nairobi airport authority, the government of Kenya and Tanzania about the little boy. All was futile. I continue to be haunted by that little boy’s fate and as if to expiate it, I have supported Under The Same Sun — (Underthesamesun.com) — a North American group that helps people with Albinism in Tanzania.

Human albinism is a hereditary condition where a child receives two copies of mutated genes. In oculocutaneous albinism there’s paucity of melanin in the skin and eyes; while ocular albinism affects eyes only. Their vision is impaired and skin cancers are common. Globally the incidence of albinism is about 1 in 20,000 births. In Tanzania it is about 1 in 2,000.

Given that life is such a burden for Tanzanians with albinism it makes sense for mothers to bear fewer babies with albinism. Curbing consanguinity and some marriage practices as well as better genetic study of the population, in addition to genetic counseling, should be undertaken in Tanzania. This vulnerable population deserves better protection indeed; humanity can’t watch babies, children and adults dismembered for their body parts.

Many of us are carriers of a variety of inherited genetic conditions that we should attempt to know about and if necessary, seek genetic testing and genetic counseling. Clearly in families where several members have had colon cancer testing for genetic mutations should be performed.

With the foregoing in mind, I believe we should endeavor to include as many people as possible under the umbrella of knowledge and benefits that accrue from recent scientific innovations and discoveries.

Pius Kamau, M.D., a retired general surgeon, is president of the Aurora-based Africa America Higher Education Partnerships (AAHEP); co-founder of the Africa Enterprise Group and an activist for minority students’ STEM education. He is a National Public Radio commentator, Huffington Post blogger, and past columnist for Denver dailies. He has authored a memoir and a novel recounting Kenya’s bloody colonial history.